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Gene: Rpgrip1l MGI:1920563

Gene Summary

Name:

Rpgrip1-like

Synonyms:

1700047E16Rik, Nphp8, Ftm, fantom

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Rpgrip1l^{tm1a(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

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Histopathology

Images

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Forepaw

12 Images

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Legacy Phenotype Associated Images

Rpgrip1l^{tm1a(EUCOMM)Wtsi}
head, WT, Female, WTSI

Rpgrip1l^{tm1a(EUCOMM)Wtsi}
forearm, WT, Female, WTSI

Rpgrip1l^{tm1a(EUCOMM)Wtsi}
head, WT, Female, WTSI

Rpgrip1l^{tm1a(EUCOMM)Wtsi}
forearm, WT, Female, WTSI

View all 247 images

Rpgrip1l^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Rpgrip1l^{tm1a(EUCOMM)Wtsi}
abnormal epidermis stratum basale morphology, HET, Female, WTSI

Rpgrip1l^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

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.

Human diseases associated with Rpgrip1l (6 diseases)
Human diseases predicted to be associated with Rpgrip1l (2976 diseases)

The table below shows human diseases associated to Rpgrip1l by orthology or direct annotation.

Disease	Matching phenotypes	Source
Meckel Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Micrognathia, Encephalocele, Congenital...	ORPHA:564
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, R...	OMIM:611561
Joubert Syndrome With Hepatic Defect	Nephropathy, Cerebellar vermis hypoplasia, Multicystic kidney dysplasia, Elevated circulating hep...	ORPHA:1454
Joubert Syndrome With Renal Defect	Nephropathy, Highly arched eyebrow, Iris coloboma, Cerebellar vermis hypoplasia, Low-set, posteri...	ORPHA:220497
Joubert Syndrome 7	Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Genu valgum, Stage 5 chronic ...	OMIM:611560
Coach Syndrome 3	Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int...	OMIM:619113

The table below shows human diseases predicted to be associated to Rpgrip1l by phenotypic similarity.

Disease	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	Short distal phalanx of finger, Finger syndactyly, Tetralogy of Fallot, Absent hand, Portal hyper...	ORPHA:974
Silver-Russell Syndrome Due To A Point Mutation	Low-set ears, Short 5th finger, Microphallus, Bifid scrotum, Small placenta, Ectrodactyly, Microg...	ORPHA:397590
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Pulmonary hypoplasia, Ventriculomegaly, Cerebellar vermis hypoplasia, Micromel...	OMIM:616546
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Mitral regurgitation, Hepatic cysts, Mitral valve prola...	OMIM:173900
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p...	OMIM:615297
Autism Spectrum Disorder Due To Auts2 Deficiency	Low-set ears, Joint contracture of the hand, Micrognathia, Narrow mouth, Cryptorchidism, Joint co...	ORPHA:352490
Congenital Disorder Of Glycosylation, Type Iiy	Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hip sublu...	OMIM:620200
Microlissencephaly	Pneumonia, Lissencephaly, Ventriculomegaly, Cerebral cortical atrophy, Cerebellar atrophy, Polymi...	ORPHA:1083
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short distal phalanx of finger, Cerebral cortical atrophy, Abnormally large globe, Downturned cor...	OMIM:239300
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic...	ORPHA:100085
Chromosome 15Q25 Deletion Syndrome	Low-set ears, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Short n...	OMIM:614294
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Unilateral wrist flexion contracture, Ventriculomegaly, Cerebellar ...	OMIM:616531
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Back pain, Multiple renal cysts, Vascular d...	ORPHA:2924
Craniotelencephalic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce...	OMIM:218670
Microphthalmia, Syndromic 3	Cryptorchidism, Anophthalmia, Ventricular septal defect, Sensorineural hearing impairment, Agenes...	OMIM:206900
Kagami-Ogata Syndrome	Thin ribs, Micrognathia, Bell-shaped thorax, Ventricular septal defect, Atrial septal defect, Hep...	OMIM:608149
Holoprosencephaly 5	Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ...	OMIM:609637
Senior-Loken Syndrome 8	Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney disease, Hepatic cyst...	OMIM:616307
Conotruncal Heart Malformations	Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ...	OMIM:217095
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Mesomel...	ORPHA:1354
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Hypoplasia of the corpus c...	OMIM:618677
Fanconi Anemia, Complementation Group I	Renal hypoplasia, Absent thumb, Short thumb, Short 1st metacarpal, Chiari malformation, Decreased...	OMIM:609053
Diamond-Blackfan Anemia 1	Persistence of hemoglobin F, Delayed cranial suture closure, Micrognathia, Ventricular septal def...	OMIM:105650
Al Amyloidosis	Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog...	ORPHA:85443
Temtamy Syndrome	Ventriculomegaly, Dental crowding, Long philtrum, Micrognathia, Agenesis of corpus callosum, Tali...	OMIM:218340
Sifrim-Hitz-Weiss Syndrome	Low-set ears, Chiari malformation, Hearing impairment, Cryptorchidism, Ventricular septal defect,...	OMIM:617159
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Transaldolase Deficiency	Low-set ears, Clitoral hypertrophy, Hepatosplenomegaly, Pancytopenia, Ventricular septal defect, ...	OMIM:606003
X-Linked Lissencephaly With Abnormal Genitalia	Ventriculomegaly, Exocrine pancreatic insufficiency, Micrognathia, Cryptorchidism, Death in infan...	ORPHA:452
Fetal Akinesia Deformation Sequence 1	Low-set ears, Thin ribs, Decreased muscle mass, Micrognathia, Narrow mouth, Cryptorchidism, Hip c...	OMIM:208150
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Abnormal mitral ...	ORPHA:217085
Cerebrooculonasal Syndrome	Narrow palate, Ventriculomegaly, Cerebellar vermis hypoplasia, Downturned corners of mouth, Long ...	OMIM:605627
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Elbow dislocation, Abnormality of the spleen, Esophagitis, Anophtha...	ORPHA:2538
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Micrognathia, Open mouth, Cryptorchidism, ...	ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Focal cortical dysplasia, Cardiomyopathy, Hypoplasia of the brainst...	OMIM:613155
Feingold Syndrome Type 1	Toe syndactyly, Multiple muscular ventricular septal defects, Micrognathia, Sensorineural hearing...	ORPHA:391641
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Anophthalmia, Orofacial cleft, Microphthalmia, Holoprosencephaly	OMIM:611638
Holzgreve Syndrome	Hypoplastic left heart, Renal hypoplasia, Cleft upper lip, Hand polydactyly, Cleft palate	OMIM:236110
Duane-Radial Ray Syndrome	Ventricular septal defect, Sensorineural hearing impairment, Aplasia of metacarpal bones, Atrial ...	OMIM:607323
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip...	ORPHA:93323
20Q13.33 Microdeletion Syndrome	Prominent crus of helix, Decreased scrotal rugation, Talipes equinovarus, Atrial septal defect, H...	ORPHA:261311
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Abnormal mitral ...	ORPHA:217093
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Tetralogy of Fall...	OMIM:617925
Spastic Paraplegia 88, Autosomal Dominant	Ventriculomegaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of cerebellar verm...	OMIM:620106
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Inferior cerebellar vermis hypoplasia, Dislocated radial head, Hypoplasia of th...	OMIM:304100
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Aortic root aneurysm, Hearing impairment, Abnormal tibia morphology, En...	ORPHA:666
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Ventricular septal def...	OMIM:616897
Fryns Microphthalmia Syndrome	Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural tube defect	OMIM:600776
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Hearing impairment, Abnormal earlobe morphology, Micrognathia, Short lingu...	ORPHA:96121
Disorganization, Mouse, Homolog Of	Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate	OMIM:223200
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricl...	ORPHA:300573
Zaki Syndrome	Toe syndactyly, Median pseudocleft lip, Micrognathia, Congenital diaphragmatic hernia, High palat...	OMIM:619648
Dextrocardia	Abnormality of abdominal situs, Abnormality of the spleen, Abnormality of the ureter, Abnormal re...	ORPHA:1666
Tarp Syndrome	Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Atrial septal defe...	OMIM:311900
Tarp Syndrome	Hearing impairment, Extramedullary hematopoiesis, Finger syndactyly, Clinodactyly, Micrognathia, ...	ORPHA:2886
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Delayed eruption of teeth, Delayed skeletal maturati...	ORPHA:73272
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development	Right aortic arch with mirror image branching	OMIM:107500
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Low-set ears, Unbalanced atrioventricular canal defect, Aortopulmonary co...	OMIM:620294
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Low-set ears, Hearing impairment, Open mouth, Long thumb, Ventricular septal defect, Sensorineura...	OMIM:220500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Type II lissencephaly, Micrognathia, Cryptorchidism, Hypoplasia of the c...	OMIM:236670
Ritscher-Schinzel Syndrome 2	Overlapping toe, Cryptorchidism, Protruding tongue, Ventricular septal defect, Low posterior hair...	OMIM:300963
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Stage 5 chronic kid...	OMIM:613095
Kaufman Oculocerebrofacial Syndrome	Low-set ears, Clitoral hypertrophy, Carious teeth, Micrognathia, Narrow mouth, Bell-shaped thorax...	OMIM:244450
D-Bifunctional Protein Deficiency	Cholestasis, Micrognathia, Hepatic steatosis, Hypoplasia of the corpus callosum, Talipes equinova...	OMIM:261515
Wrinkly Skin Syndrome	Low-set ears, Hypoplasia of the musculature, Carious teeth, Delayed cranial suture closure, Crypt...	OMIM:278250
Jacobsen Syndrome	Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Multicystic kidney dysplasia, Toe synd...	ORPHA:2308
Dilated Cardiomyopathy With Ataxia	Optic atrophy, Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic trans...	ORPHA:66634
Trisomy 8P	Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Cryptorchidism, ...	ORPHA:264450
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Microcephaly, Spina bifida, Spina bifida...	ORPHA:64754
1Q21.1 Microdeletion Syndrome	Toe syndactyly, Broad thumb, Ankyloglossia, Cryptorchidism, Sensorineural hearing impairment, Age...	ORPHA:250989
Floating-Harbor Syndrome	Low-set ears, Carious teeth, Broad thumb, Recurrent otitis media, Cryptorchidism, Low posterior h...	OMIM:136140
Caudal Duplication	Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Myelomeningocele, Cryptorchi...	ORPHA:1756
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Cerebellar vermis hypoplasia, Small hand, Widely spaced teeth, Micrognathi...	ORPHA:459061
Mirage Syndrome	Aspiration pneumonia, Radial club hand, Lymphopenia, Overlapping fingers, Cryptorchidism, Talipes...	OMIM:617053
Oligomeganephronia	Branchial cyst, Hearing impairment, Micrognathia, Congenital diaphragmatic hernia, Pulmonary veno...	ORPHA:2260
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Cerebellar vermis atrophy, Splenome...	OMIM:616719
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Polymicrogyria, Situs inversus totalis, Narrow mouth, Agenesis of corpus call...	OMIM:614833
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Pulmonary edema, Atrial s...	ORPHA:980
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Retrognathia, Secondary microcephaly, Partial agenesis of the corpus ca...	OMIM:620113
Stormorken Syndrome	Epistaxis, Howell-Jolly bodies, Increased circulating lactate dehydrogenase concentration, Abnorm...	OMIM:185070
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Premature adrenarche, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Cry...	OMIM:620450
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Bifid uvula, Increased mean corpuscular volume, Retrognathia, Cleft uppe...	OMIM:612561
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
Schizencephaly	Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum	OMIM:269160
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Prominent nasal tip, Atri...	OMIM:618870
Trichohepatoenteric Syndrome 1	Low-set ears, Cholestasis, Large placenta, Narrow mouth, Ventricular septal defect, Cirrhosis, Cu...	OMIM:222470
Intellectual Developmental Disorder, Autosomal Dominant 65	Downturned corners of mouth, Long philtrum, Thick upper lip vermilion, Micrognathia, Tented upper...	OMIM:619320
Alagille Syndrome	Cholestasis, Abnormality of the ureter, Micrognathia, Cryptorchidism, Ventricular septal defect, ...	ORPHA:52
Sub-Cortical Nodular Heterotopia	Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi...	ORPHA:101029
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Pancy...	OMIM:614576
Mucopolysaccharidosis-Plus Syndrome	Chorioretinal hypopigmentation, Low posterior hairline, Short neck, Atrial septal defect, Neutrop...	OMIM:617303
Fontaine Progeroid Syndrome	Low-set ears, Small scrotum, Micrognathia, Narrow mouth, Cryptorchidism, Protruding tongue, Neona...	OMIM:612289
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu...	OMIM:614091
Autosomal Recessive Multiple Pterygium Syndrome	Low-set ears, Small scrotum, Limitation of joint mobility, Hearing impairment, Finger syndactyly,...	ORPHA:2990
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Small hand, Toe syndactyly, Hearing impairment, Micrognathia, Cryptorchidism, Ventricular septal ...	OMIM:610759
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Broad thumb, Hearing impairment, Clinodactyly, Micrognathia, Cryptorchidism, Ventri...	OMIM:616894
Heart And Brain Malformation Syndrome	Low-set ears, Hand clenching, Ventricular septal defect, Everted lower lip vermilion, Microphthal...	OMIM:616920
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Partial agenesis of t...	ORPHA:85179
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Periventricular cysts, A...	ORPHA:255182
Chilton-Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Ankyloglossia, Micrognathia, Cryptorchidism, Sensorineural ...	OMIM:619841
Martsolf Syndrome 1	Tooth malposition, Micrognathia, Cryptorchidism, Talipes equinovarus, Broad fingertip, Microphtha...	OMIM:212720
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Downturned corners of mouth, Abnormal mesentery morphology, Abnorma...	ORPHA:2075
Orofaciodigital Syndrome Type 10	Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Tarsal synostosis, Mesomelic arm s...	ORPHA:2756
Fumarase Deficiency	Aminoaciduria, Depressed nasal bridge, Optic atrophy, Intrahepatic cholestasis, Hepatic failure, ...	OMIM:606812
Distal Deletion 12Q	Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Overlapping toe, Micr...	ORPHA:96149
Lissencephaly, X-Linked, 2	Ventriculomegaly, Long philtrum, Pachygyria, Decreased testicular size, Micrognathia, Agenesis of...	OMIM:300215
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Recurrent respiratory infections, Periventricular leukomalacia, Cerebellar atrophy, Agenesis of c...	OMIM:618324
Maternal Phenylketonuria	Wide nasal bridge, Hypoplastic left heart, Hypoplastic helices, Clinodactyly, Long philtrum, Abno...	ORPHA:2209
Autosomal Recessive Amelia	Micrognathia, Acromelia of the lower limbs, Cryptorchidism, Orofacial cleft, Aplasia/Hypoplasia o...	ORPHA:1027
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis...	OMIM:615482
Chromosome 3Q13.31 Deletion Syndrome	Ventriculomegaly, Alobar holoprosencephaly, Decreased testicular size, Cryptorchidism, Agenesis o...	OMIM:615433
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum, Talipes equinovarus, Micropenis, Polycystic kidney dysplasia, Cone-s...	OMIM:613091
Lissencephaly 8	Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of t...	OMIM:617255
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Low-set ears, Hydranencephaly, Limitation of joint mobility, Camptodactyly of finger, Abnormal pl...	ORPHA:2570
Congenital Sialidosis Type 2	Low-set ears, Hearing impairment, Cherry red spot of the macula, Hepatosplenomegaly, Protruding t...	ORPHA:93400
1P36 Deletion Syndrome	Delayed cranial suture closure, Abnormal female external genitalia morphology, Abnormality of the...	ORPHA:1606
Peho-Like Syndrome	Ventriculomegaly, Cerebellar atrophy, Retrognathia, Polymicrogyria, Open mouth, Hypoplasia of the...	OMIM:617507
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Hypoplasia of the iris, Cryptorchidism, Hypoplasia of the c...	OMIM:613001
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Stage 5 chronic kidney dise...	OMIM:615994
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Low-set ears, Delayed cranial suture closure, Overlapping toe, Overlapping fingers, Atrial septal...	OMIM:619383
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Clinodactyly of the 3rd toe, Downturned corners of mouth, Oligodactyly, Agenesis of corpus callos...	ORPHA:521308
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Micrognathia, Cryptorchidism, Ventricular septal defect, Sensorineural hea...	OMIM:194190
Oculofaciocardiodental Syndrome	Tooth malposition, Hearing impairment, Genu valgum, Mitral valve prolapse, Sensorineural hearing ...	ORPHA:2712
Acalvaria	Abnormal lung lobation, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Postax...	ORPHA:945
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Low-set ears, Aplasia of the thymus, Short neck, Sprengel anomaly, Atrial septal defect, Hypopara...	OMIM:618223
Spondylocostal Dysostosis 4, Autosomal Recessive	Aplasia of posterior communicating artery, Chiari type II malformation, Bell-shaped thorax, Short...	OMIM:613686
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Ventriculomegaly, Rieger anomaly, Malar flattening, Agenesis of corpus...	OMIM:109120
Lathosterolosis	2-3 toe cutaneous syndactyly, Intrahepatic cholestasis, Hepatic fibrosis, Postaxial foot polydact...	OMIM:607330
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia, Hepatomegaly, Meningo...	ORPHA:1759
Smith-Magenis Syndrome	Toe syndactyly, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the ureter, Micrognathi...	ORPHA:819
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the dentition, Pectus carinatum, Premature birth, Delayed skeletal maturation, Fin...	ORPHA:3268
Multiple Pterygium Syndrome, X-Linked	Low-set ears, Depressed nasal ridge, Thin ribs, Cystic hygroma, Joint dislocation, Edema, Cleft u...	OMIM:312150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Lissencephaly, Ventriculomegaly, Retrognathia, Polymicrogyria, Type II lissencephaly, Hypoplasia ...	OMIM:614643
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Trisomy 4P	Abnormality of the dentition, Carious teeth, Preaxial hand polydactyly, Radial club hand, Camptod...	ORPHA:1738
Distal 22Q11.2 Microdeletion Syndrome	Toe syndactyly, Abnormal earlobe morphology, Ankyloglossia, Narrow mouth, Ventricular septal defe...	ORPHA:261330
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Hypoplasia of the brainstem, Polymicrogyr...	OMIM:618730
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Ventriculomegaly, Broad hallux, Deviation of the 5th finger, Tented up...	OMIM:616362
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death	OMIM:620203
Curry-Jones Syndrome	Ventriculomegaly, Broad thumb, Lip pit, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial f...	OMIM:601707
Rubinstein-Taybi Syndrome 2	Carious teeth, Broad thumb, Short 5th toe, Micrognathia, High palate, Syndactyly, Prominent finge...	OMIM:613684
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum	ORPHA:401820
Phace Syndrome	Retinal vascular malformation, Iris coloboma, Optic nerve hypoplasia, Aortic root aneurysm, Abnor...	ORPHA:42775
Intellectual Developmental Disorder, Autosomal Recessive 13	Slender finger, Inferior cerebellar vermis hypoplasia, Downturned corners of mouth, Cleft upper l...	OMIM:613192
Blau Syndrome	Nephropathy, Xerostomia, Limitation of joint mobility, Abnormal cranial nerve morphology, Abnorma...	ORPHA:90340
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Abnormal mitral valve morphology, Sensorineural hearing im...	ORPHA:192
Degcags Syndrome	Low-set ears, Toe syndactyly, Hepatosplenomegaly, Pancytopenia, Micrognathia, Ventricular septal ...	OMIM:619488
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum	ORPHA:401830
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Zttk Syndrome	Low-set ears, Small hand, Absent gallbladder, Narrow mouth, Ventricular septal defect, Breech pre...	OMIM:617140
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia, Hypogonadism, Narrow mouth, Microcephaly, Microphthalmia, High palate	ORPHA:2528
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Micrognathia, Congenital hepatic fibrosis	ORPHA:446
Lissencephaly 6 With Microcephaly	Ventriculomegaly, Cerebellar atrophy, Widely spaced teeth, Polymicrogyria, Simplified gyral patte...	OMIM:616212
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, 2-5 finger syndactyly, T...	OMIM:308050
Lujan-Fryns Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger...	ORPHA:776
Cockayne Syndrome Type 3	Carious teeth, Dry hair, Aortic root aneurysm, Premature graying of hair, Peripheral axonal neuro...	ORPHA:90324
Hypertelorism, Microtia, Facial Clefting Syndrome	Short 5th finger, Cleft upper lip, Abnormal heart morphology, Micrognathia, Narrow mouth, 2-3 toe...	OMIM:239800
Lethal Congenital Contracture Syndrome 10	Low-set ears, Increased variability in muscle fiber diameter, Overlapping fingers, Micrognathia, ...	OMIM:617022
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Recurrent otitis media, Asplenia, Situs inversus totalis, Dextrocardia	OMIM:618948
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Ventriculomegaly, Polymicrogyria, Hypoplasia of the brainstem, Micrognathia, Age...	OMIM:225790
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal earlobe morphology, Recurrent otitis media, Open mouth, Cryptorchidism, Ventricular sept...	ORPHA:500159
Combined Oxidative Phosphorylation Deficiency 2	Elevated circulating hepatic transaminase concentration, Neonatal death, Agenesis of corpus callo...	OMIM:610498
Dihydropyrimidine Dehydrogenase Deficiency	Cerebral atrophy, Elevated urinary dihydrothymine level, Agenesis of corpus callosum, Microcephal...	OMIM:274270
Contractures-Developmental Delay-Pierre Robin Syndrome	Overlapping toe, Micrognathia, Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Thorac...	ORPHA:436003
Chromosome 13Q14 Deletion Syndrome	Low-set ears, Hearing impairment, Chorioretinal coloboma, Supernumerary nipple, Overlapping toe, ...	OMIM:613884
Glossopharyngeal Neuralgia	Tongue pain, Oral-pharyngeal dysphagia, Cranial nerve compression, Schwannoma, Abnormal palate mo...	ORPHA:221098
Noonan Syndrome	Dilatation of the renal pelvis, Abnormality of the spleen, Micrognathia, Cryptorchidism, Sensorin...	ORPHA:648
Pierre Robin Syndrome	Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Tubulointerstitial fibrosis, Hepatomegaly, Polycystic kidney dysplasia, Esophagea...	OMIM:263200
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Juberg-Hayward Syndrome	Cleft upper lip, Decreased response to growth hormone stimulation test, Horseshoe kidney, Limited...	OMIM:216100
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Micrognathia, Frontal upsweep of hair, Ventricular septal defect, Atrial septal defect, High pala...	OMIM:617061
Developmental And Epileptic Encephalopathy 88	Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Progressive microcephaly, Everted ...	OMIM:618959
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth,...	OMIM:253010
Aicardi Syndrome	Precocious puberty, Cerebellar vermis hypoplasia, Recurrent pneumonia, Dilated third ventricle, C...	OMIM:304050
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Postaxial foot polydactyly, Biliary cirrhosi...	OMIM:267010
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Cervical spine hypermobility, Hypoplasia of the o...	OMIM:305400
Bonnemann-Meinecke-Reich Syndrome	Ventriculomegaly, Decreased response to growth hormone stimulation test, Cerebral calcification, ...	ORPHA:1261
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypogo...	OMIM:613313
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Micrognathia, Absent gallbladder, ...	ORPHA:3310
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Uretera...	ORPHA:2257
Chromosome 3Pter-P25 Deletion Syndrome	Low-set ears, Hearing impairment, Overlapping toe, Micrognathia, Cryptorchidism, High palate, Ana...	OMIM:613792
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypospadias, Mandibular prognathia, Cerebellar atrophy, Unilateral cleft lip, Focal polymicrogyri...	OMIM:619103
Charlie M Syndrome	Finger syndactyly, Tooth agenesis, Micrognathia, Narrow mouth, Triphalangeal thumb, Abnormal meta...	ORPHA:1406
Anophthalmia Plus Syndrome	Deviation of finger, Anophthalmia, Bilateral cleft palate, Spina bifida, Non-midline cleft of the...	ORPHA:1104
Lissencephaly 1	Ventriculomegaly, Hypoplasia of the brainstem, Secondary microcephaly, Cerebellar hypoplasia, Abn...	OMIM:607432
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w...	ORPHA:163966
Joubert Syndrome 15	Micropenis, Nephronophthisis, Exencephaly, Preaxial polydactyly	OMIM:614464
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Foot oligodactyly, Portal hypertension, Splenomegaly, Ventric...	OMIM:616589
Treacher-Collins Syndrome	Small scrotum, Open bite, Abnormal hair morphology, Micrognathia, Narrow mouth, Encephalocele, Cr...	ORPHA:861
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Low-set ears, Hypoplastic anterior commissure, Hypoplasia of the pons, Micrognathia, Cryptorchidi...	OMIM:616975
Cornelia De Lange Syndrome 6	Low-set ears, Frontal upsweep of hair, Ventricular septal defect, Arachnodactyly, Macrotia, Short...	OMIM:620568
Noonan Syndrome 2	Low-set ears, Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low...	OMIM:605275
Arthrogryposis, Distal, Type 1C	Bifid uvula, Cleft lip, Shoulder flexion contracture, Retrognathia, Pursed lips, Camptodactyly of...	OMIM:619110
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the maxilla, Renal hypoplasia, Caudal appendage, Vent...	ORPHA:314679
Cantu Syndrome	Thick upper lip vermilion, Broad first metatarsal, Bicuspid aortic valve, Short neck, Hypoplastic...	OMIM:239850
Contractural Arachnodactyly, Congenital	Crumpled ear, Aortic root aneurysm, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Ve...	OMIM:121050
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Clinodactyly, Dysgenesis of the basal ganglia, Cryptorchidism, Exaggerated cupid's bow, Agenesis ...	OMIM:620316
Wiedemann-Steiner Syndrome	Low-set ears, Small hand, Recurrent otitis media, Long hallux, Contracture of the distal interpha...	OMIM:605130
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Hepatic fibrosis, Acute hepatic failure, Cerebellar vermis atrophy, Hepatosplenomegaly, Talipes e...	ORPHA:466794
Oculoauriculovertebral Spectrum With Radial Defects	Preaxial hand polydactyly, Atrioventricular canal defect, Distal urethral duplication, Vesicouret...	ORPHA:2549
Johanson-Blizzard Syndrome	Abnormality of the dentition, Hypospadias, Delayed eruption of teeth, Exocrine pancreatic insuffi...	ORPHA:2315
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Short distal phalanx of finger, Webbed neck, Renal agenesis, Underdeveloped ...	ORPHA:2516
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Aplasia/Hypoplasia affecting the eye, Neutropen...	ORPHA:175
Burning Mouth Syndrome	Abnormal fifth cranial nerve morphology, Strawberry tongue, Tongue pain, Xerostomia, Smooth tongu...	ORPHA:353253
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Hypoplasia of the maxilla, Ventriculomegaly, Respiratory trac...	OMIM:218000
Cockayne Syndrome Type 2	Male hypogonadism, Widely spaced primary teeth, Hypoplasia of the primary teeth, Cryptorchidism, ...	ORPHA:90322
Congenital Gerbode Defect	Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en...	ORPHA:99095
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the fovea, Cerebellar hypoplasia, Prima...	OMIM:607196
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo...	ORPHA:404440
2Q31.1 Microdeletion Syndrome	Low-set ears, Toe syndactyly, Finger syndactyly, Abnormal hair morphology, Abnormal tibia morphol...	ORPHA:251014
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Narrow mouth, Cryptorchidism, Agenesis of corpus callosum, Bilateral sens...	ORPHA:468631
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Ventriculomegaly, Abnormal heart morphology, Micrognathia, Abnormal...	ORPHA:261197
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial...	ORPHA:99050
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Wide nasal base, Facial hypertrichosis, Hypoplasia of the pons, Clinodactyly, Hepatosplenomegaly,...	ORPHA:397709
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Cerebral atrophy, Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus...	OMIM:618492
Toriello-Carey Syndrome	Low-set ears, Hearing impairment, Clinodactyly, Micrognathia, Cryptorchidism, Agenesis of corpus ...	ORPHA:3338
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Hypoplasia of the maxilla, Cereb...	OMIM:301108
Intellectual Disability-Strabismus Syndrome	Low-set ears, Joint contracture of the hand, Limitation of joint mobility, Hearing impairment, Re...	ORPHA:363528
Proboscis Lateralis	Chorioretinal coloboma, Anophthalmia, Ventricular septal defect, Microphthalmia, High palate, Cyc...	ORPHA:141099
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo...	OMIM:615382
Craniosynostosis 3	Dental malocclusion, Single transverse palmar crease, Hallux valgus, Brachydactyly, Partial agene...	OMIM:615314
Temtamy Syndrome	Short toe, Thick lower lip vermilion, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Ab...	ORPHA:1777
Yunis-Varon Syndrome	Low-set ears, Clitoral hypertrophy, Hearing impairment, Aplasia of the distal phalanx of the hall...	ORPHA:3472
Solitary Median Maxillary Central Incisor	Cleft upper lip, Decreased response to growth hormone stimulation test, Prominent median palatal ...	OMIM:147250
Loeys-Dietz Syndrome 5	Aortic root aneurysm, Decreased muscle mass, Cleft soft palate, Mitral regurgitation, Ventricular...	OMIM:615582
Clark-Baraitser syndrome	Genu recurvatum, Broad nasal tip, Exaggerated median tongue furrow, Widely-spaced maxillary centr...	OMIM:300602
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Ascites, Ankyloglossia, Aniridia, Decreased skul...	OMIM:602361
Heme Oxygenase 1 Deficiency	Epistaxis, Diffuse alveolar hemorrhage, Nephritis, Increased circulating lactate dehydrogenase co...	OMIM:614034
Arachnoid Cyst	Holoprosencephaly, Chiari malformation, Sciatica, Cranial nerve compression, Vertigo, Lower limb ...	ORPHA:2356
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Delayed skeletal maturation, Fet...	OMIM:614857
Hartsfield Syndrome	Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Split...	ORPHA:2117
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Hypogonadism, Mesoaxial han...	OMIM:615996
Holoprosencephaly 7	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Bilateral cleft palate, Agenesis of corpu...	OMIM:610828
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Joubert Syndrome With Hepatic Defect	Nephropathy, Cerebellar vermis hypoplasia, Multicystic kidney dysplasia, Elevated circulating hep...	ORPHA:1454
Adams-Oliver Syndrome 2	Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Micrognathia, Absent distal phala...	OMIM:614219
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Bifid uvula, Mandibular prognathia, Hypoplasia of the brainstem, Tented upper lip vermilion, Sing...	OMIM:618622
Floating-Harbor Syndrome	Low-set ears, Carious teeth, Dilatation of the renal pelvis, Clinodactyly, Cryptorchidism, Short ...	ORPHA:2044
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension, Mediastinal lymphadenopathy, Pulmonary capillary hemangiomatosis...	OMIM:234810
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So...	OMIM:602418
Kleefstra Syndrome	Limitation of joint mobility, Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricul...	ORPHA:261494
Trisomy 20P	Finger syndactyly, Abnormality of the ureter, Micrognathia, Cryptorchidism, Abnormal antihelix mo...	ORPHA:261318
Cerebrooculofacioskeletal Syndrome 4	Slender long bone, Flared metaphysis, Dislocated radial head, Camptodactyly of finger, Elbow flex...	OMIM:610758
Frontorhiny	Cranium bifidum occultum, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger...	ORPHA:391474
Congenital Rubella Syndrome	Type I diabetes mellitus, Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal d...	ORPHA:290
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Abnormal ...	ORPHA:1830
Coffin-Siris Syndrome 1	Low-set ears, Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Hearing impairment, Cryptorc...	OMIM:135900
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Low-set ears, Aplasia/Hypoplasia of the earlobes, Abnormal female external genitalia morphology, ...	ORPHA:2637
Ciliary Dyskinesia, Primary, 1	Pneumonia, Anosmia, Nasal polyposis, Bronchiectasis, Conductive hearing impairment, Atelectasis, ...	OMIM:244400
Teebi Hypertelorism Syndrome 1	Small hand, Natal tooth, Aortic root aneurysm, Micrognathia, Ventricular septal defect, Atrial se...	OMIM:145420
Microphthalmia, Syndromic 11	Cleft upper lip, Agenesis of corpus callosum, Agenesis of pineal gland, Microphthalmia, Cleft palate	OMIM:614402
Congenital Disorder Of Glycosylation, Type Ia	Hepatic steatosis, Death in childhood, Hepatomegaly, Nephrotic syndrome, Cerebellar vermis hypopl...	OMIM:212065
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Lateral ventricle dilatation, Type II lissencephaly, Genu valgum, Micrognathia, Abnor...	ORPHA:300570
Thanatophoric Dysplasia	Low-set ears, Abnormal ilium morphology, Hearing impairment, Atrial septal defect, Abnormality of...	ORPHA:2655
Vacterl/Vater Association	Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Cryptorchidism, Congeni...	ORPHA:887
Williams Syndrome	Carious teeth, Micrognathia, Mitral regurgitation, Ventricular septal defect, Patent ductus arter...	ORPHA:904
Pentalogy Of Cantrell	Hypospadias, Aplasia/Hypoplasia of the radius, Polysplenia, Abnormal tibia morphology, Tetralogy ...	ORPHA:1335
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Spina bifida...	ORPHA:2476
Tetrasomy 15Q26	Low-set ears, Microretrognathia, Cupped ear, Horseshoe kidney, Hypoplastic aortic arch, Kyphoscol...	OMIM:614846
Fraser Syndrome 1	Low-set ears, Clitoral hypertrophy, Atresia of the external auditory canal, Aplasia/Hypoplasia of...	OMIM:219000
Cranioectodermal Dysplasia 2	Low-set ears, Clinodactyly, Cholestasis, Micrognathia, Sparse eyelashes, Short neck, Atrial septa...	OMIM:613610
Chromosome 10Q26 Deletion Syndrome	Flared nostrils, Small scrotum, Low-set ears, Toe syndactyly, Micrognathia, Cryptorchidism, Senso...	OMIM:609625
Congenital Toxoplasmosis	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cerebral calcification...	ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Cerebe...	OMIM:606612
Joubert Syndrome 1	Nephropathy, Hepatic fibrosis, Cerebellar vermis hypoplasia, Postaxial foot polydactyly, Enlarged...	OMIM:213300
Congenital Tricuspid Valve Dysplasia	Premature birth, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent for...	ORPHA:555874
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Cerebellar malformation, Orofac...	ORPHA:324416
Adams-Oliver Syndrome 1	Aortic valve stenosis, Toe syndactyly, Supernumerary nipple, Encephalocele, Hypoplasia of the cor...	OMIM:100300
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Ventriculome...	ORPHA:1988
Acromelic Frontonasal Dysostosis	Short tibia, Hypopituitarism, Cryptorchidism, Encephalocele, Agenesis of corpus callosum, Hypopla...	OMIM:603671
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Broad thumb, Ventriculomegaly, Long philtrum, Narrow mouth, Malar flat...	ORPHA:261295
Septooptic Dysplasia	Optic disc hypoplasia, Short finger, Decreased response to growth hormone stimulation test, Absen...	OMIM:182230
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cholestasis, Hepatosplenomegaly, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Ventr...	OMIM:614866
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Wide nasal bridge, Depressed nasal ridge, Low-set ears, Abnormal optic nerve morphology, Underdev...	ORPHA:77300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Thin ribs, Contracture of the distal interphalangeal joint of the fingers, Microgna...	ORPHA:83617
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Cirrhosis, A...	ORPHA:101028
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Broad thumb, Chorioretinal coloboma, Cryptorchidism, Pseudoepiphyse...	OMIM:107480
Congenital Disorder Of Glycosylation, Type Iit	Low-set ears, Small hand, Conductive hearing impairment, Sandal gap, Prominent nasal bridge, Tent...	OMIM:618885
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Kyphosis, Skeletal muscle atrophy, Cherry red spot of the ...	OMIM:230650
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle...	ORPHA:1457
Opitz Gbbb Syndrome	Low-set ears, Cryptorchidism, Ventricular septal defect, Agenesis of corpus callosum, Abnormal na...	OMIM:300000
Joubert Syndrome 9	Hepatic fibrosis, Ventriculomegaly, Stage 5 chronic kidney disease, Encephalocele	OMIM:612285
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Precocious puberty, Bifid uvula, Ventriculomegaly, Cleft upper lip, Hypoplasia of the corpus call...	OMIM:300958
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Abnormality of the ureter,...	ORPHA:798
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Hearing impairment, Recurrent o...	OMIM:253220
Bone Dysplasia, Lethal Holmgren Type	Bell-shaped thorax, Short neck, Atrial septal defect, Metaphyseal dysplasia, Hepatomegaly, Patent...	ORPHA:1842
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Low-set ears, Arthrogryposis multiplex congenita, Hypoplasia of the pons, Micrognathia, Narrow mo...	OMIM:619512
Stuve-Wiedemann Syndrome 1	Wide nasal base, Low-set ears, Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, ...	OMIM:601559
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Joint stiffness, ...	OMIM:620210
Laurence-Moon Syndrome	Finger syndactyly, Type II diabetes mellitus, Bilateral single transverse palmar creases, Cryptor...	ORPHA:2377
Laterality Defects, Autosomal Dominant	Asplenia, Situs inversus totalis, Heterotaxy	OMIM:601086
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Cleft upper lip, Cardiac rhabdomyoma, Microphthal...	OMIM:109400
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Dilated third ventricle, Lateral ventricle dilatation, Cryptorchid...	OMIM:620371
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A...	OMIM:113000
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Small hand, Prominent fingertip pads, Long philtrum, Sandal gap, Lateral ven...	OMIM:612863
Cockayne Syndrome Type 1	Hearing impairment, Cryptorchidism, Anophthalmia, Anodontia, Delayed eruption of primary teeth, H...	ORPHA:90321
Codas Syndrome	Crumpled ear, Ventricular septal defect, Sensorineural hearing impairment, Extrahepatic biliary d...	ORPHA:1458
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Cerebellar atrophy, Periventricular leukomalacia, Microcephaly, Hydroc...	OMIM:618302
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Small placenta, Abnormal heart morphology, Abnor...	ORPHA:439167
Developmental And Speech Delay Due To Sox5 Deficiency	Optic atrophy, Narrow palate, Gastroesophageal reflux, Exaggerated median tongue furrow, Dental c...	ORPHA:313892
Dominant Beta-Thalassemia	Abnormality of the dentition, Hepatic fibrosis, Dilated cardiomyopathy, Hyperplasia of the maxill...	ORPHA:231226
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Hearing impairment, Finger syndactyly, Open bite, Micrognathia, Age...	ORPHA:2750
3Mc Syndrome 1	Lambdoidal craniosynostosis, Caudal appendage, Hearing impairment, Supernumerary nipple, Ventricu...	OMIM:257920
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Increased anterioposterior diameter of thorax, Mitral regurgitation, Vent...	ORPHA:99125
Femoral-Facial Syndrome	Low-set ears, Toe syndactyly, Micrognathia, Encephalocele, Cryptorchidism, Ventricular septal def...	OMIM:134780
Kabuki Syndrome 2	Low-set ears, Natal tooth, Hearing impairment, Recurrent otitis media, Micrognathia, Atrial septa...	OMIM:300867
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hepatic failure, Renal hypoplasia, Secundum atrial septal defect, Retrognathia, Umbilical hernia,...	OMIM:619758
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Tympanosclerosis, Hypoparathyroidism, Female hypogonadism, Perifoveal ring of hyperautofluorescen...	OMIM:240300
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr...	OMIM:600348
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis, Low-set ears, Delayed cranial suture closure, Micrognathia, High, narrow p...	ORPHA:2780
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation, Basal ganglia calcification, Hepatosplenomegaly, Cerebral calcifica...	OMIM:619487
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
4Q21 Microdeletion Syndrome	Abnormality of the dentition, Small hand, Toe syndactyly, Ventriculomegaly, Downturned corners of...	ORPHA:238750
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Dilatation of the cerebral artery, Elevated circulating alkaline phosphatase concentrati...	OMIM:174050
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cryptorchidism, Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1074
Mosaic Variegated Aneuploidy Syndrome 2	Low-set ears, Hearing impairment, Clinodactyly, Micrognathia, Narrow mouth, Ventricular septal de...	OMIM:614114
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Hearing impairment, Ge...	OMIM:253000
Zechi-Ceide Syndrome	Short distal phalanx of finger, Cerebellar vermis hypoplasia, Sandal gap, Cleft upper lip, Malar ...	OMIM:612916
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic root aneurysm, Severe conductive hearing impairment, Genu valgum, Mitral regurgitation, Mi...	ORPHA:230851
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad...	ORPHA:959
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Cerebellar atrophy, Cerebral atrophy, Micrognathia, Agenesi...	OMIM:615095
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Sandal gap, Hypoplasia of the zygomatic bone, Supernumerary nipple, Abnormal de...	ORPHA:1812
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Clitoral hypertrophy, Abnormal helix morphology, Hearing impairment, Micrognathia, ...	OMIM:214100
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Depressed nasal bridge, Alopecia, Coarse hair, Renal hypoplasia, Long philtrum, Anteverted nares,...	ORPHA:75389
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Small cerebral cortex, Downturned corners of mouth, Clinodactyly, Periventricular leukomalacia, T...	OMIM:617360
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Small hand, Shallow acetabular fossae, Giant platelets, Lateral ventricle dilatatio...	OMIM:611209
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Ventricular septal defect, Radioulnar syn...	OMIM:192350
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Ulnar deviation of finger, Hypoplasia of the maxilla, Long philtrum, Camptod...	ORPHA:1101
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Distal 7Q11.23 Microdeletion Syndrome	Patent ductus arteriosus, Chiari malformation, Atrial septal defect	ORPHA:254351
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Peripheral arteriovenou...	ORPHA:90308
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory ...	OMIM:618254
Even-Plus Syndrome	Epiphyseal dysplasia, Renal hypoplasia, Dysplasia of the femoral head, Vesicoureteral reflux, Pat...	OMIM:616854
Congenital Neuronal Ceroid Lipofuscinosis	Ventriculomegaly, Cerebral hypoplasia, Cerebellar atrophy, Neuronal loss in the cerebral cortex, ...	ORPHA:168486
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Subependymal cysts, Hypoplasia of the corpus callosum, Thin upper lip ...	OMIM:618737
White-Sutton Syndrome	Low-set ears, Abnormality of the outer ear, Broad thumb, Hypoplastic cervical vertebrae, Microgna...	OMIM:616364
Igg4-Related Kidney Disease	Chronic kidney disease, Arteritis, Lymphadenitis, Abnormal mesentery morphology, Urethritis, Hema...	ORPHA:449395
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of...	ORPHA:1110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Low-set ears, Lambdoidal craniosynostosis, Restrictive cardiomyopathy, Open mouth, High palate, P...	OMIM:615398
Tetraamelia Syndrome 2	Low-set ears, Absent nipple, Microretrognathia, Ankyloglossia, Micrognathia, Bilateral lung agene...	OMIM:618021
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Low-set ears, Overlapping toe, Genu valgum, Mitral regurgitation, Carpal bone hypoplasia, Short n...	ORPHA:457395
Multiple Pterygium Syndrome, Lethal Type	Low-set ears, Depressed nasal ridge, Thin ribs, Cystic hygroma, Joint dislocation, Edema, Short f...	OMIM:253290
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Recurrent respiratory infections, Median cleft palate, Microphthalmia	ORPHA:2432
Chromosome 5Q12 Deletion Syndrome	Hypotension, Long philtrum, Prominent nose, Micrognathia, Overfolded helix, Increased nuchal tran...	OMIM:615668
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Elev...	OMIM:265450
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Depressed nasal bridge, Fetal ascites, Narrow chest, Micromelia, F...	OMIM:215045
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Adrenal insufficiency, Microcephaly, Hip dysplasia	OMIM:619025
Cardiofaciocutaneous Syndrome 1	Low-set ears, Hearing impairment, Open bite, Micrognathia, Open mouth, Absent eyelashes, Peripher...	OMIM:115150
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hypoplastic iliac wing, Jaundice, Foot polydactyly, Bile duct proliferati...	OMIM:208500
Holoprosencephaly 14	Low-set ears, Cleft lip, Cerebellar atrophy, Alobar holoprosencephaly, Proboscis, Macrotia, Cyclo...	OMIM:619895
Polydactyly, Preaxial I	Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p...	OMIM:174400
Microphthalmia, Syndromic 6	Inferior cerebellar vermis hypoplasia, Toe syndactyly, Finger syndactyly, Thumb contracture, Apla...	OMIM:607932
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Narrow chest, Stage 5 chronic kidney disease, Hepatic cysts, Polydactyly, Brachydactyly, Short lo...	OMIM:613819
Seckel Syndrome 2	Hypospadias, Microglossia, Basal ganglia calcification, Micrognathia, Microdontia, Cerebellar hyp...	OMIM:606744
Preaxial Hallucal Polydactyly	Preaxial foot polydactyly, Diabetes mellitus, Preaxial hand polydactyly	OMIM:601759
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Recurrent pneumonia, Ventriculomegaly, Camptodactyly of finger, Micrognathia, Narrow mouth, Abnor...	ORPHA:1495
Dislocation Of The Hip-Dysmorphism Syndrome	Wide nasal bridge, Depressed nasal ridge, Congenital hip dislocation, Abnormality of the urinary ...	ORPHA:2412
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Biventricular hypertrophy, Median pseudocleft lip, Recurrent ot...	OMIM:616462
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Optic atrophy, Recurrent pneumonia, Rhizomelia, Narrow chest, Thoracic hypoplasia,...	OMIM:602271
Mosaic Trisomy 14	Wide nasal bridge, Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Low-set, poste...	ORPHA:1703
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Low-set ears, Clitoral hypertrophy, Toe syndactyly, Valvular pulmonary stenosis, Bicuspid aortic ...	OMIM:300707
Ring Chromosome 7 Syndrome	Small hand, Narrow naris, Prominent crus of helix, Genu valgum, Narrow mouth, Lumbar kyphoscolios...	ORPHA:1449
Noonan Syndrome 13	Low-set ears, Clinodactyly, Recurrent otitis media, Overlapping toe, Micrognathia, Cryptorchidism...	OMIM:619087
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Low-set ears, Hearing impairment, Clinodactyly, Open mouth, Cryptorchidism, Frontal upsweep of ha...	ORPHA:369891
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microcephaly, Microphthalmia	OMIM:616335
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Malar prominence, Micrognathia, Hypogonadotropic hyp...	ORPHA:48431
Isolated Corpus Callosum Agenesis	Agenesis of corpus callosum	ORPHA:200
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Lateral ventricle dilatation, Tented upper lip vermilion, Death in childhood, Thin upper lip verm...	OMIM:619517
Microhydranencephaly	Hydranencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cere...	OMIM:605013
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Hypospadias, Clinodactyly, Downturned corners of mouth, Cardiomyopathy, Proximal placement of thu...	OMIM:217980
Joubert Syndrome 37	Wide nasal bridge, Low-set ears, Cerebellar vermis hypoplasia, Broad neck, Decreased testicular s...	OMIM:619185
Kondoh Syndrome	Interphalangeal joint contracture of finger, Long philtrum, Preaxial hand polydactyly, Thin upper...	OMIM:606242
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Hearing impairment, Aspiration pneumonia, Genu valgum, Urinary glycosa...	ORPHA:581
Klippel-Feil Syndrome 2, Autosomal Recessive	Conductive hearing impairment, Cleft upper lip, Ventricular septal defect, Cervical C2/C3 vertebr...	OMIM:214300
Global Developmental Delay With Or Without Impaired Intellectual Development	Low-set ears, Lateral ventricle dilatation, Bulbous nose, Ventricular septal defect, Oligodontia,...	OMIM:618330
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Decreased liver function, Dilatation of the cerebral artery, Hepatic cysts, Hypertension, Polycys...	OMIM:600666
Perlman Syndrome	Low-set ears, Hyperinsulinemia, Micrognathia, Open mouth, Cryptorchidism, Bilateral single transv...	ORPHA:2849
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Chronic sinusitis, Chronic bronchitis, Ventricular septal defect, Dextroc...	OMIM:616037
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Clinodactyly, Genu valgum, Malar flattening, Hypoplasia of the corpus callo...	OMIM:607131
Kyphoscoliotic Ehlers-Danlos Syndrome	Low-set ears, Hearing impairment, Micrognathia, Myopathy, Sensorineural hearing impairment, Arach...	ORPHA:536545
White Forelock With Malformations	Prominent veins on trunk, White forelock, Atrial septal defect, Aplasia/Hypoplasia of the distal ...	OMIM:277740
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hand clenching, Congenital hip dislocation, Ventriculomegaly, Cerebellar vermis hypoplasia, Later...	OMIM:618291
Meckel Syndrome, Type 10	Malformation of the hepatic ductal plate, Bifid uvula, Hypospadias, Postaxial foot polydactyly, O...	OMIM:614175
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Atrial s...	OMIM:257300
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Tooth malposition, Ventriculomegaly, Recurrent respiratory infections, Hypoplasia of the corpus c...	OMIM:618603
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Cone-shaped epiphysis, Unilateral cleft lip, Abnormality of the wrist, Bil...	ORPHA:2511
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Abnormality of the dentition, Conical tooth, Hypogonadism, Agenesis of cerebellar vermis, Cryptor...	ORPHA:228390
Radio-Tartaglia Syndrome	High, narrow palate, Precocious puberty, Dental crowding, Retrognathia, Long philtrum, Thick verm...	OMIM:619312
Hurler Syndrome	Abnormal vertebral morphology, Limitation of joint mobility, Hearing impairment, Endocardial fibr...	ORPHA:93473
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Optic atrophy, Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Situ...	OMIM:249270
3-Hydroxyisobutyric Aciduria	Cerebral cortical atrophy, Ventriculomegaly, Long philtrum, Aplasia/Hypoplasia of the corpus call...	ORPHA:939
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Hearing impairment, Partial fusion of...	OMIM:305620
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Usmani-Riazuddin Syndrome, Autosomal Recessive	High palate, Agenesis of corpus callosum	OMIM:619548
Igg4-Related Ophthalmic Disease	Abnormality of the sphenoid sinus, Prostatitis, Abnormality of the anterior pituitary, Abnormalit...	ORPHA:449563
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the urinary system, Upper limb muscle weakness, Lower limb muscle weakness, Aspira...	ORPHA:90117
Jawad Syndrome	Retrognathia, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Primary microcephaly, Sin...	OMIM:251255
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Low-set ears, Hydrometrocolpos, Hepatomegaly, Patent ductus arteriosus, Accessory oral frenulum, ...	OMIM:617088
Neurooculocardiogenitourinary Syndrome	Low-set ears, Downturned corners of mouth, Bilateral cryptorchidism, Tricuspid regurgitation, Pro...	OMIM:618652
Diets-Jongmans Syndrome	Broad nasal tip, Hearing impairment, Umbilical hernia, Long ear, Wide mouth, Cryptorchidism, Hete...	OMIM:618846
Roberts-Sc Phocomelia Syndrome	Low-set ears, Clitoral hypertrophy, Clinodactyly, Hyperplasia of the maxilla, Narrow naris, Enlar...	OMIM:268300
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Widely-spaced maxillary central...	OMIM:619719
Microcephaly-Capillary Malformation Syndrome	Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Abnormal hair whorl, Short distal phalanx...	OMIM:614261
Cornelia De Lange Syndrome 2	Small hand, Ventriculomegaly, Downturned corners of mouth, Clinodactyly, Hypertrophic cardiomyopa...	OMIM:300590
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Small hand, Elevated circulating hepatic transaminase concent...	OMIM:620005
Autosomal Recessive Primary Microcephaly	Unilateral renal agenesis, Ventriculomegaly, Vesicoureteral reflux, Agenesis of corpus callosum, ...	ORPHA:2512
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, Mitral regurgitation, Vent...	OMIM:608328
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Mitral regurgitation, Ventricular septal defect, Patellar subluxatio...	OMIM:615879
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
2Q24 Microdeletion Syndrome	Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing...	ORPHA:1617
Richieri-Costa/Guion-Almeida Syndrome	Cleft upper lip, Malar flattening, Abnormal digit morphology, Palmoplantar cutis laxa, Microcepha...	OMIM:268850
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi...	ORPHA:2751
8Q12 Microduplication Syndrome	Wide nasal bridge, Highly arched eyebrow, Gastroesophageal reflux, Long philtrum, Abnormal crania...	ORPHA:228399
Microcephaly, Seizures, And Developmental Delay	Ventriculomegaly, Cerebellar atrophy, Hypoplasia of the corpus callosum, Microcephaly, Progressiv...	OMIM:613402
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped...	ORPHA:2299
Au-Kline Syndrome	Chronic kidney disease, Aortic root aneurysm, Dilatation of the renal pelvis, Supernumerary nippl...	OMIM:616580
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of corpus callosum, Microcephaly, ...	OMIM:618736
Schwartz-Jampel Syndrome, Type 1	Low-set ears, Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contrac...	OMIM:255800
Craniofacioskeletal Syndrome	Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Barrel-shaped chest, Ventricular se...	OMIM:300712
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Thomas Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Cleft upper lip, Oligohydramnios, Renal hyp...	ORPHA:3316
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Nestor-Guillermo Progeria Syndrome	Thin ribs, Micrognathia, Mitral regurgitation, Sparse eyelashes, Limited elbow movement, Right at...	OMIM:614008
Intellectual Developmental Disorder, Autosomal Recessive 69	Cerebellar hypoplasia, Microcephaly, Ventriculomegaly, Hyperplasia of the maxilla	OMIM:618383
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Carious teeth, Natal tooth, Branchial cyst, Atresia of the external auditory canal,...	OMIM:620186
Steinfeld Syndrome	Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Hearing impairme...	OMIM:184705
Classical-Like Ehlers-Danlos Syndrome Type 2	Tooth malposition, Periodontitis, Aortic root aneurysm, Prominent veins on trunk, Elbow dislocati...	ORPHA:536532
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Supernumerary nipple, Premature graying of hair, Ectopic thymus...	OMIM:113620
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Overhanging nasal tip, Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial sept...	ORPHA:163979
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Cryptorchidism, Hypoplasia of the corpus callosum, Short foot, Hypospadias, Polymicro...	OMIM:300354
Waardenburg Syndrome Type 1	Hearing impairment, White hair, Premature graying of hair, Abnormal hair morphology, White forelo...	ORPHA:894
Joubert Syndrome 36	Highly arched eyebrow, Pectus carinatum, Mesoaxial hand polydactyly, Anteverted nares, Open mouth...	OMIM:618763
Moebius Syndrome	Hand clenching, Clinodactyly, Micrognathia, Lower limb undergrowth, Talipes equinovarus, Micropht...	OMIM:157900
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Pectus carinatum, Aortic root aneurysm, Open mouth, Cryptorchidism, Mitral regurgitation, Ventric...	OMIM:301039
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n...	OMIM:613426
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Diffuse white matter abnormalities, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Diffu...	OMIM:613925
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Hearing impairment, Cryptorchidism, Protruding tongue, Agenesis of corpus ...	ORPHA:96147
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Optic atrophy, Broad nasal tip, Microretrognathia, Downturned corners of mouth, Gastroesophageal ...	ORPHA:457193
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Bifid uvula, Small hand, Ventriculomegaly, Long philtrum, Decreased response to growth hormone st...	OMIM:241410
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Situs inversus totalis, Heterotaxy, Chronic bronchitis, Chronic...	OMIM:613807
Oculodentodigital Dysplasia	Carious teeth, Dry hair, Clinodactyly, Joint contracture of the 5th finger, Arrhythmia, Atrial se...	OMIM:164200
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Abnormal lung lobation, Mi...	ORPHA:3301
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack,...	ORPHA:99104
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Wide mouth, Agenesis of corpus callosum, Thin upper lip vermilion, Smooth philtrum, Microcephaly,...	OMIM:619989
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Aortic root aneurysm, Hearing impairment, Aspiration p...	ORPHA:444077
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, Retrognathia, Micrognathia, Death in childhood, 3-Methylglutacon...	OMIM:604273
Senior-Loken Syndrome 9	Hepatic fibrosis, Nephronophthisis, Hypogonadism, Cholestasis, Stage 5 chronic kidney disease, Ch...	OMIM:616629
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact...	ORPHA:3098
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Cupped ear, Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Ventri...	OMIM:613870
ERI1-related disease	Low-set ears, Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Patellar dis...	OMIM:608739
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Chiari malformation, Hearing impairment, Lateral ventricle dilatation, Absent gallb...	ORPHA:500150
Schuurs-Hoeijmakers Syndrome	Low-set ears, Cryptorchidism, Bicuspid aortic valve, Large hands, Patent ductus arteriosus, Macro...	OMIM:615009
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Low-set ears, Choanal atresia, Optic disc coloboma, Intestinal malrotation, Renal duplication, Po...	OMIM:270420
Pagod Syndrome	Multicystic kidney dysplasia, Abnormality of the spleen, Female pseudohermaphroditism, Encephaloc...	ORPHA:991
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Oligodactyly, S...	OMIM:251230
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Flattened epiphysis, Dislocated radial head, High palate, Short me...	OMIM:612350
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebral atrophy, Small basal ganglia, Gingival o...	OMIM:616900
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Vici Syndrome	Low-set ears, Everted upper lip vermilion, Lymphopenia, Micrognathia, Decreased proportion of CD4...	OMIM:242840
Cerebrooculonasal Syndrome	Hypoplasia of penis, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary medi...	ORPHA:66625
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Hydrocephalus, Cortical dysp...	OMIM:618709
Faciocardiomelic Syndrome	Depressed nasal bridge, Osteopenia, Narrow chest, Dental malocclusion, Slender long bone, Hyperpl...	OMIM:612731
Microphthalmia With Linear Skin Defects Syndrome	Clitoral hypertrophy, Hearing impairment, Abnormal earlobe morphology, Micrognathia, Mitral regur...	ORPHA:2556
19P13.12 Microdeletion Syndrome	Low-set ears, Finger syndactyly, Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Mi...	ORPHA:254346
Genitopatellar Syndrome	Hypoplastic ilia, Multicystic kidney dysplasia, Delayed eruption of teeth, Long philtrum, Microgn...	ORPHA:85201
Beta-Thalassemia Major	Abnormality of the dentition, Hepatic fibrosis, Dilated cardiomyopathy, Hyperplasia of the maxill...	ORPHA:231214
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,...	ORPHA:505248
Gabriele-De Vries Syndrome	Low-set ears, Lateral ventricle dilatation, Micrognathia, Frontal upsweep of hair, Cryptorchidism...	OMIM:617557
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2...	OMIM:156510
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca...	OMIM:619371
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Down Syndrome	Atlantoaxial dislocation, Narrow mouth, Open mouth, Acute megakaryocytic leukemia, Ventricular se...	ORPHA:870
Schimke Immunoosseous Dysplasia	Shallow acetabular fossae, Lymphopenia, Pancytopenia, Talipes equinovarus, Short neck, Neutropeni...	OMIM:242900
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Low-set ears, Ventricular hypertrophy, Aortic root aneurysm, Recurrent otitis media, Lymphopenia,...	OMIM:620654
Li-Campeau Syndrome	Low-set ears, Long philtrum, Hypertrichosis, Patellar hypoplasia, Thick eyebrow, Cryptorchidism, ...	OMIM:619189
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Chronic sinusitis, Dextrocardia, Recurrent respiratory infections, Bronch...	OMIM:614679
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Global brain atrophy, Cerebellar atrophy, Hypoplasia of the pons, Dysplastic corpus callosum, Mic...	OMIM:618276
Aicardi Syndrome	Small hand, Chorioretinal coloboma, Prominence of the premaxilla, Hepatoblastoma, Retinal detachm...	ORPHA:50
Hajdu-Cheney Syndrome	Aortic valve stenosis, Low-set ears, Periodontitis, Hearing impairment, Chiari malformation, Open...	ORPHA:955
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Toe syndactyly, Broad thumb, Delayed eruption of teeth, F...	ORPHA:87
Coffin-Siris Syndrome 4	Sparse scalp hair, Everted upper lip vermilion, Hearing impairment, Ventricular septal defect, Ag...	OMIM:614609
Autoinflammation, Immune Dysregulation, And Eosinophilia	Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Hypothyroidism, Membranous...	OMIM:618999
Congenital Hydrocephalus	Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Abnormal heart morphology, M...	ORPHA:2185
Subependymal Nodular Heterotopia	Occipital encephalocele, Focal cortical dysplasia, Polymicrogyria, Myelomeningocele, Meningocele,...	ORPHA:101030
Joubert Syndrome With Renal Defect	Nephropathy, Highly arched eyebrow, Iris coloboma, Cerebellar vermis hypoplasia, Low-set, posteri...	ORPHA:220497
Ritscher-Schinzel Syndrome 3	Cerebellar vermis hypoplasia, Short 1st metacarpal, Atrioventricular canal defect, Short first me...	OMIM:619135
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Peripher...	OMIM:156530
Developmental Delay With Variable Neurologic And Brain Abnormalities	Widely spaced teeth, Micrognathia, Down-sloping shoulders, Microdontia, Cubitus valgus, Microceph...	OMIM:619694
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Abnormal hand morphology, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic v...	ORPHA:228190
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal ...	OMIM:613458
Stevenson-Carey Syndrome	Low-set ears, Joint contracture of the hand, Gastroesophageal reflux, Downturned corners of mouth...	OMIM:611961
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Broad thumb, Global brain atrophy, Broad hallux, Long philtrum, Hypopl...	ORPHA:481152
Bartsocas-Papas Syndrome 1	Low-set ears, Hypoplastic scapulae, Alopecia totalis, Hypoplastic iliac wing, Micrognathia, Absen...	OMIM:263650
Fibrochondrogenesis 1	Low-set ears, Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad l...	OMIM:228520
Chromosome 14Q11-Q22 Deletion Syndrome	Micrognathia, Narrow mouth, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus...	OMIM:613457
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Ventriculomegaly, Cerebellar atrophy, Delayed eruption of teeth, Cere...	OMIM:619797
Oculomaxillofacial Dysostosis	Abnormality of the dentition, Camptodactyly of finger, Micrognathia, Median cleft upper lip, Apla...	ORPHA:1794
Glycine Encephalopathy 1	Hyperglycinuria, Death in infancy, Agenesis of corpus callosum	OMIM:605899
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Low-set ears, Broad thumb, Hearing impairment, Overlapping toe, Cryptorchidism, Ventricular septa...	OMIM:617452
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Decreased testicular size, Cryp...	ORPHA:85279
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Narrow mouth, Cryptorchidism, Hypoplasia of the corpus callosum, Hypospadias, Cone-...	OMIM:618659
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:99413
Mosaic Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:99228
Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:99226
Turner Syndrome	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:881
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Cerebral calcification, Abnormal basal ganglia morphology, Hepatic steatos...	ORPHA:228308
Mucopolysaccharidosis Type 2	Limitation of joint mobility, Abnormal mitral valve morphology, Sensorineural hearing impairment,...	ORPHA:580
Ventriculomegaly With Defects Of The Radius And Kidney	Absent thumb, Renal agenesis, Lateral ventricle dilatation, Horseshoe kidney, Bowed forearm bones...	OMIM:602200
Vacterl With Hydrocephalus	Retrognathia, Micrognathia, Cryptorchidism, Anophthalmia, Hypoplasia of the radius, Spina bifida,...	ORPHA:3412
Joubert Syndrome 30	Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Postaxial hand...	OMIM:617622
Semilobar Holoprosencephaly	Aspiration pneumonia, Abnormal gastrointestinal tract morphology, Sensorineural hearing impairmen...	ORPHA:220386
Alobar Holoprosencephaly	Aspiration pneumonia, Abnormal gastrointestinal tract morphology, Sensorineural hearing impairmen...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Aspiration pneumonia, Abnormal gastrointestinal tract morphology, Sensorineural hearing impairmen...	ORPHA:93926
Lobar Holoprosencephaly	Aspiration pneumonia, Abnormal gastrointestinal tract morphology, Sensorineural hearing impairmen...	ORPHA:93924
Familial Scaphocephaly Syndrome, Mcgillivray Type	Ventriculomegaly, Toe syndactyly, Open bite, High palate, Mandibular prognathia, Broad hallux pha...	ORPHA:168624
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Low-set ears, Delayed epiphyseal ossification, Bell-shaped thorax, Short neck, Flat acetabular ro...	OMIM:613320
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Ove...	ORPHA:314585
Otopalatodigital Syndrome, Type Ii	Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers...	OMIM:304120
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Widely-spaced maxillary central incisors, Delayed skeletal maturation, Thick lower lip vermilion,...	OMIM:608227
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Clinodactyly, Cleft upper lip, Ectrodactyly, Tooth agenesis, Cryptorchidism, Agenesis of corpus c...	OMIM:147950
Gm1 Gangliosidosis Type 1	Low-set ears, Hearing impairment, Aspiration pneumonia, Cherry red spot of the macula, Hepatosple...	ORPHA:79255
Tetraamelia Syndrome 1	Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Microphthalmia, Anal atresia, Choana...	OMIM:273395
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism, Submucous cle...	ORPHA:250999
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the maxilla, Retrognathia, Hypoplasia of the pons, Micrognathia, Malar flattening, ...	OMIM:620157
H Syndrome	Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Abnormality of the kidney, Recurrent p...	ORPHA:168569
Cornelia De Lange Syndrome 5	Small hand, Toe syndactyly, Ventriculomegaly, Downturned corners of mouth, Long philtrum, Widely ...	OMIM:300882
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis...	OMIM:614377
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Broad proximal phalanges of the hand, Cleft upper lip, Bilateral microphthal...	OMIM:607597
X-Linked Intellectual Disability Due To Gria3 Mutations	Open mouth, Cryptorchidism, Micropenis, Uplifted earlobe, Abnormality of muscle size, Macrotia, C...	ORPHA:364028
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Facial Clefting, Oblique, 1	Deep palmar crease, Cleft palate, Cleft upper lip, Microphthalmia	OMIM:600251
7Q31 Microdeletion Syndrome	Low-set ears, Clinodactyly of the 2nd finger, Atrial septal defect, Torticollis, Dysphagia, Galac...	ORPHA:251061
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,...	OMIM:311895
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Long philtrum, Partial agenesis of the corpus callosum, Wide mouth, ...	OMIM:620250
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va...	OMIM:604381
Frontometaphyseal Dysplasia 2	Low-set ears, Broad thumb, Decreased muscle mass, Cryptorchidism, Hip contracture, Sensorineural ...	OMIM:617137
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Breech presentation, Multiple prenatal fractures, Protrusio aceta...	OMIM:610682
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Micrognathia, Cryptorchidi...	ORPHA:628
Noonan Syndrome 10	Low-set ears, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Mitral regurgitat...	OMIM:616564
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Genu valgum, C...	OMIM:619142
Joubert Syndrome 6	Hepatic fibrosis, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Nephronophthisi...	OMIM:610688
Maternal Uniparental Disomy Of Chromosome X	Hepatic failure, Rocker bottom foot, Camptodactyly of finger, Agenesis of corpus callosum, Cubitu...	ORPHA:261519
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Ventriculomegaly, Broad thumb, Sandal gap, Polymicrogyria, Hamartom...	OMIM:619775
Fraser Syndrome	Small scrotum, Abnormality of the outer ear, Toe syndactyly, Abnormal vagina morphology, Atresia ...	ORPHA:2052
Noonan Syndrome 9	Webbed neck, Sparse eyebrow, Hydroureter, Cryptorchidism, Ventricular septal defect, Short neck, ...	OMIM:616559
Pearson Syndrome	Hearing impairment, Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegal...	ORPHA:699
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Micrognathia, Type II diabetes mellitus, Bilateral single transverse ...	ORPHA:3191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Type II lissencephaly, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia	OMIM:614830
Short Stature And Facioauriculothoracic Malformations	Low-set ears, Pectus carinatum, Cupped ear, Cleft upper lip, Cervical ribs, Abnormal odontoid pro...	OMIM:609654
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Low-set ears, Neonatal death, Talipes equinovarus, Short neck, Renal dysplasia, Ureteral agenesis...	OMIM:236500
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Chiari malformation, Malar flattening, Abnormal palate morphology, Abn...	ORPHA:93262
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Narrow mouth, Ventricular septal defect, Microcephaly, Atrial ...	ORPHA:3469
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Low-set ears, Toe syndactyly, Broad thumb, Hearing impairment, Overlapping toe, Cryptorchidism, V...	ORPHA:505237
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Ventriculomegaly, Dilated cardiomyopathy, Sandal gap, Ventricular septal def...	ORPHA:2515
Lambotte Syndrome	Semilobar holoprosencephaly, Retrognathia, Preaxial foot polydactyly, Narrow mouth, Ventricular s...	OMIM:245552
Lenz-Majewski Hyperostotic Dwarfism	Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Agenesis of c...	OMIM:151050
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Abruzzo-Erickson Syndrome	Iris coloboma, Ulnar deviation of finger, Toe syndactyly, Conductive hearing impairment, Short to...	ORPHA:921
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Sensorineural hearing impairment, ...	ORPHA:3320
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Cleft palate, Cleft upper lip, Microphthalmia	OMIM:120433
Kabuki Syndrome 1	Abnormal vertebral morphology, Low-set ears, Anoperineal fistula, Hearing impairment, Lateral ven...	OMIM:147920
Holoprosencephaly 11	Cleft lip, Polysplenia, Thick eyebrow, Agenesis of corpus callosum, Holoprosencephaly, Cleft pala...	OMIM:614226
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Talipes equinovarus, Hypoplasia of the corpus callosum	OMIM:613162
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Situs inversus totalis, Dextrocardia	ORPHA:66630
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Low-set ears, Small hand, Hearing impairment, Atrial septal defect, Anal atresia, Short foot, Hip...	OMIM:300968
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Aortic root aneurysm, Chiari malformation, Generalized arterial to...	OMIM:610168
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Microcephaly, Ventriculomegaly, Agenesis o...	OMIM:615286
Curry-Jones Syndrome	Ventriculomegaly, Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Agen...	ORPHA:1553
German Syndrome	Wide nasal bridge, Depressed nasal bridge, Limitation of joint mobility, Lymphedema, Tetralogy of...	ORPHA:2077
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Toe syndactyly, Cryptorchidism, Ventricular septal defect, Arachnodactyly,...	ORPHA:464306
Diprosopus	Abnormal cardiac septum morphology, Anencephaly, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1681
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Shashi-Pena Syndrome	Low-set ears, Mild fetal ventriculomegaly, Atrial septal defect, Patent ductus arteriosus, Short ...	OMIM:617190
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Peripheral pulmonary artery stenosis, Broad nasal tip, Anal stenosis, Hearing ...	OMIM:614749
Juvenile Sialidosis Type 2	Low-set ears, Optic atrophy, Abnormal form of the vertebral bodies, Hearing impairment, Umbilical...	ORPHA:93399
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Split foot, Abnormal palate...	ORPHA:1540
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Cerebral...	OMIM:618476
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Lissencephaly, Bifid uvula, Retrognathia, Umbilical hernia, Hypertrophic cardiomyopathy, Secondar...	OMIM:612938
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Atresia of the external auditory canal, Supernumerary nipple, Sparse body hair, Ventricular septa...	OMIM:106260
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Bronchiectasis, Chronic sinusitis, Dextrocardia	OMIM:618063
Proteus Syndrome	Depressed nasal bridge, Mandibular hyperostosis, Facial hyperostosis, Venous malformation, Open m...	OMIM:176920
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Highly arched eyebrow, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Rad...	OMIM:605282
Mesoaxial Hexadactyly And Cardiac Malformation	External genital hypoplasia, Ventricular septal defect, Hand polydactyly, Atrial septal defect, E...	OMIM:249670
Distal Xq28 Microduplication Syndrome	Epistaxis, Recurrent upper respiratory tract infections, Broad nasal tip, Hypoplasia of the maxil...	ORPHA:293939
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul...	OMIM:607941
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, Restrictive cardiomyopathy, Hearing impairment, Micrognathia, Abnormal gastrointest...	ORPHA:369837
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Coffin-Siris Syndrome 6	High, narrow palate, Depressed nasal bridge, Low-set ears, Broad nasal tip, Conductive hearing im...	OMIM:617808
Tick-Borne Encephalitis	Tongue fasciculations, Hearing impairment, Abnormal cranial nerve morphology, Abnormality of the ...	ORPHA:297
Rere-Related Neurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal heart morphology, Micrognathia, Vesicour...	ORPHA:494344
Vici Syndrome	Optic atrophy, Hypoplasia of the pons, Cardiomyopathy, Recurrent respiratory infections, Abnormal...	ORPHA:1493
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Foot polydactyly, High palate, Short foot, Syndactyly, High, narrow p...	OMIM:209900
Kawasaki Disease	Arrhythmia, Recurrent pharyngitis, Jaundice, Vasculitis, Sterile pyuria, Palmar edema, Arthritis,...	ORPHA:2331
Blepharocheilodontic Syndrome 1	Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly, Neural tube defect	OMIM:119580
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Cutaneous finger syndactyly, Median cleft upper lip, 2-3 toe syndactyly, Split ha...	DECIPHER:46
Mungan Syndrome	Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Tricuspid regurgitation, Abno...	OMIM:611376
Alkuraya-Kucinskas Syndrome	Hand clenching, Clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Overlapping fingers, Ove...	OMIM:617822
Pseudo-Torch Syndrome 1	Ventriculomegaly, Cleft lip, Elevated circulating hepatic transaminase concentration, Microretrog...	OMIM:251290
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Carious teeth, Toe syndactyly, Finger syndactyly, Abnormality of the ureter, Micro...	ORPHA:3253
16P12.1P12.3 Triplication Syndrome	Low-set ears, Atrial septal defect, Tachycardia, Short nose, High, narrow palate, Short 5th finge...	ORPHA:485405
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Recurrent otitis...	OMIM:620570
Coffin-Siris Syndrome	Wide nasal base, Hearing impairment, Clinodactyly, Aspiration pneumonia, Cryptorchidism, Ventricu...	ORPHA:1465
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo...	OMIM:231100
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Ventriculomegaly, Temporal cortical atrophy, Retrocerebellar cyst, Aplasia/Hypoplasia of the cere...	ORPHA:137831
Mycophenolate Mofetil Embryopathy	Micrognathia, Agenesis of corpus callosum, Ventricular septal defect, Orofacial cleft, Hydrocepha...	ORPHA:268249
Carey-Fineman-Ziter Syndrome 1	Hypoplasia of the musculature, Micrognathia, Cryptorchidism, Myopathy, Sensorineural hearing impa...	OMIM:254940
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Low-set ears, Hypoplastic helices, Cleft upper lip, Macrotia, Tetralogy of Fallot, Absent pulmona...	OMIM:600460
Ciliary Dyskinesia, Primary, 44	Recurrent sinusitis, Bronchiectasis, Heterotaxy	OMIM:618781
Mehmo Syndrome	Male hypogonadism, Cleft lip, Ventriculomegaly, Long philtrum, Widely spaced teeth, Decreased res...	OMIM:300148
Holoprosencephaly-Caudal Dysgenesis Syndrome	Low-set ears, Abnormal cerebral vascular morphology, Radial club hand, Renal insufficiency, Media...	ORPHA:2165
Poland Syndrome	Hypoplasia of deltoid muscle, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Sy...	OMIM:173800
Blepharonasofacial Malformation Syndrome	Wide nasal bridge, Optic atrophy, Hearing impairment, Underdeveloped nasal alae, Long philtrum, T...	ORPHA:1252
Bresek Syndrome	Renal hypoplasia, Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Neonatal deat...	ORPHA:85284
Hartsfield Syndrome	Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Cleft uppe...	OMIM:615465
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary aminoisobutyric acid, Elevated ...	OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca...	OMIM:615249
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Low-set ears, Everted upper lip vermilion, Hearing impairment, Supernumerary nipple, Micrognathia...	OMIM:619951
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Open mouth, Agenesis of corpus callosum, Hypoplastic aortic arch, Inguinal hernia, Clinodactyly o...	ORPHA:457284
Malan Syndrome	Ventriculomegaly, Retrognathia, Gingival overgrowth, Narrow mouth, Hypoplasia of the corpus callo...	OMIM:614753
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo...	ORPHA:250972
Cardiofaciocutaneous Syndrome	Genu valgum, Cryptorchidism, Low posterior hairline, Short neck, Atrial septal defect, Brittle ha...	ORPHA:1340
Distal Deletion 10P	Micrognathia, Bilateral single transverse palmar creases, Cryptorchidism, Polycystic ovaries, Mic...	ORPHA:1580
Thoracoabdominal Syndrome	Renal agenesis, Cleft upper lip, Congenital diaphragmatic hernia, Anencephaly, Transposition of t...	OMIM:313850
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Yellow nails, Webbed neck, Chylothorax, Cleft upper lip, Lym...	OMIM:153400
Melkersson-Rosenthal Syndrome	Facial edema, Furrowed tongue, Facial palsy	OMIM:155900
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Porphyrinuria	OMIM:176090
Ritscher-Schinzel Syndrome 4	Narrow palate, Thick vermilion border, Cryptorchidism, Narrow palm, Agenesis of corpus callosum, ...	OMIM:619435
Baraitser-Winter Cerebrofrontofacial Syndrome	Delayed cranial suture closure, Micrognathia, Low posterior hairline, Short neck, Osteochondrosis...	ORPHA:2995
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Abnormal circulating h...	ORPHA:280356
Thanatophoric Dysplasia Type 1	Hearing impairment, Bowing of the long bones, Atrial septal defect, Aplasia/Hypoplasia of the lun...	ORPHA:1860
Joubert Syndrome 2	Low-set ears, Postaxial foot polydactyly, Chorioretinal coloboma, Encephalocele, Molar tooth sign...	OMIM:608091
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Bohring-Opitz Syndrome	Cholelithiasis, Cleft lip, Annular pancreas, Retrognathia, Recurrent respiratory infections, Urin...	ORPHA:97297
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Long philtrum, Cerebr...	OMIM:619244
Simpson-Golabi-Behmel Syndrome, Type 2	Recurrent upper respiratory tract infections, Broad thumb, Ventriculomegaly, Recurrent respirator...	OMIM:300209
Cerebellofaciodental Syndrome	Low-set ears, Hypoplasia of the pons, Genu valgum, Cryptorchidism, Mitral valve prolapse, Ventric...	OMIM:616202
Fg Syndrome 3	Broad thumb, Broad hallux, Cryptorchidism, Death in infancy, Agenesis of corpus callosum, Chiari ...	OMIM:300406
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pulmonary hypoplasia, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal ...	OMIM:615503
Cutis Laxa, Autosomal Recessive, Type Ib	Low-set ears, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Congenital dia...	OMIM:614437
Mogs-Cdg	Hepatosplenomegaly, Overlapping fingers, Sensorineural hearing impairment, Pulmonary edema, Atria...	ORPHA:79330
Kabuki Syndrome	Small hand, Cryptorchidism, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Re...	ORPHA:2322
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy, Micrognathia, Narrow mouth, Neonatal death, Dysplastic corpus callos...	OMIM:618810
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp...	OMIM:106700
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Low-set ears, Elevated circulating luteinizing hormone level, Abnormal antihelix morphology, Abno...	ORPHA:95699
Trisomy 17P	Aortic valve stenosis, Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Low posterio...	ORPHA:261290
Bardet-Biedl Syndrome 5	Hypogonadism, Polydactyly, Brachydactyly, Micropenis, Syndactyly	OMIM:615983
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Poland Syndrome	Small hand, Finger syndactyly, Ureterocele, Cryptorchidism, Encephalocele, Aplasia/Hypoplasia of ...	ORPHA:2911
Peroxisome Biogenesis Disorder 8A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Epiphyseal stippling, Ventricular ...	OMIM:614876
Joubert Syndrome 3	Wide nasal bridge, Low-set ears, Highly arched eyebrow, Pigmentary retinopathy, Cerebellar vermis...	OMIM:608629
Cantú Syndrome	Finger syndactyly, Low posterior hairline, Generalized hirsutism, Short neck, Short hallux, Paten...	ORPHA:1517
Histiocytosis-Lymphadenopathy Plus Syndrome	Hearing impairment, Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral...	OMIM:602782
Muscle-Eye-Brain Disease	Optic atrophy, Myopathy, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holopr...	ORPHA:588
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Finger clino...	ORPHA:306542
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia, Short tibia, Polydactyly, Median cleft upper lip, High palate, Cl...	OMIM:300484
Arima Syndrome	Postaxial foot polydactyly, Hepatic steatosis, Hematuria, Cirrhosis, Tubulointerstitial fibrosis,...	OMIM:243910
Wolcott-Rallison Syndrome	Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepati...	ORPHA:1667
Congenital Disorder Of Glycosylation, Type Iih	Ventriculomegaly, Clinodactyly of the 3rd toe, Cerebellar atrophy, Finger clinodactyly, Elevated ...	OMIM:611182
Lessel-Kreienkamp Syndrome	Wide nasal bridge, Hypoplastic helices, Gastroesophageal reflux, Dental malocclusion, Hearing imp...	OMIM:619149
Mulibrey Nanism	Absent frontal sinuses, Pericardial constriction, Hepatomegaly, Recurrent lower respiratory tract...	OMIM:253250
Noonan Syndrome 12	Chiari malformation, Anteriorly placed anus, Decreased response to growth hormone stimulation tes...	OMIM:618624
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Abnormality of the dentition, Cerebellar vermis hypoplasia, Secundum atrial septal d...	OMIM:615802
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia, Total anomalous pulmonary venous return, Acetabular dysplasia	OMIM:618313
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Pelger-Huet Anomaly	Depressed nasal bridge, Abnormality of the dentition, Giant platelets, Short 3rd metacarpal, Umbi...	OMIM:169400
Oculoauriculofrontonasal Syndrome	Cleft lip, Micrognathia, Narrow mouth, Encephalocele, Pericallosal lipoma, Ventricular septal def...	ORPHA:398156
Stickler Syndrome	Hearing impairment, Open bite, Micrognathia, Genu valgum, Mitral valve prolapse, Sensorineural he...	ORPHA:828
10Q22.3Q23.3 Microduplication Syndrome	Low-set ears, Abnormality of the dentition, Microretrognathia, Abnormal clavicle morphology, Tetr...	ORPHA:276422
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Type I diabetes mellitus, Semilobar holoprosencephaly, Hypoplasia of the zygomatic bone, Long phi...	OMIM:618500
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Pulmonary lymp...	OMIM:235255
17Q23.1Q23.2 Microdeletion Syndrome	Shallow acetabular fossae, Limitation of joint mobility, Hearing impairment, Narrow mouth, Bilate...	ORPHA:261279
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Low-set ears, Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Fl...	OMIM:300232
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Low-set ears, Hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Hip contracture...	OMIM:178110
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Low-set ears, Nemaline bodies, Webbed neck, Cardiomyopathy, Underdeveloped nasal alae, Long philt...	OMIM:616549
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic ...	OMIM:619902
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Limitation of joint mobility, Hydroureter, Camptodactyly of finger, Duodenal stenosis, Micrognath...	ORPHA:2547
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Turnpenny-Fry Syndrome	Low-set ears, Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Mitral valve prolapse, Pro...	OMIM:618371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Cerebellar dy...	OMIM:615181
Holoprosencephaly 2	Bifid uvula, Anterior pituitary agenesis, Alobar holoprosencephaly, Semilobar holoprosencephaly, ...	OMIM:157170
Craniofrontonasal Syndrome	Toe syndactyly, Cryptorchidism, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Low...	OMIM:304110
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Abnormal hair morphology, Anophthalmia, Retinal detachment, Atrial septal defect, Chorioretinal d...	ORPHA:2526
Shprintzen-Goldberg Syndrome	Low-set ears, Chiari malformation, Elbow dislocation, Micrognathia, Genu valgum, Cryptorchidism, ...	ORPHA:2462
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Ventriculomegaly, Micrognathia, Short philtrum, Cavum septum pelluc...	OMIM:619074
Diamond-Blackfan Anemia	Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate...	ORPHA:124
Pycnodysostosis	Small hand, Carious teeth, Chiari malformation, Delayed cranial suture closure, Hypoplastic iliac...	ORPHA:763
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Senso...	ORPHA:2790
Foxg1 Syndrome	Abnormal corpus callosum morphology, Optic disc hypoplasia, Hypoplasia of the corpus callosum, Ag...	ORPHA:561854
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Micrognathia, Ventric...	OMIM:620663
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Low-set ears, Toe syndactyly, Dilatation of the ventricular cavity, Narrow mouth, Cryptorchidism,...	ORPHA:459070
Atelis Syndrome 1	Carious teeth, Long philtrum, Prominent nose, Leukopenia, Glue ear, Ventricular septal defect, Lu...	OMIM:620184
Rhombencephalosynapsis	Ventriculomegaly, Microretrognathia, Finger syndactyly, Fusion of the left and right thalami, Fus...	ORPHA:59315
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Renal hypoplasia, Narrow mouth, Split hand, Camptod...	OMIM:246560
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Hypoplasia of the maxilla, Umbilical hernia, Abnormal heart morphology, Cryptorchidi...	OMIM:601499
Neurofibroma	Intestinal bleeding, Peripheral schwannoma, Recurrent otitis media, Abnormal cranial nerve morpho...	ORPHA:252183
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Micrognathia, Narr...	OMIM:265000
Microphthalmia, Lenz Type	Hearing impairment, Chorioretinal coloboma, Finger syndactyly, Cryptorchidism, Renal hypoplasia/a...	ORPHA:568
Limb Body Wall Complex	Progressive congenital scoliosis, Cutaneous finger syndactyly, Encephalocele, Congenital diaphrag...	ORPHA:2369
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micrognathia, Cryptorchidism, Talipes equinovarus, Large hands, High palate, Short foot, Cholelit...	OMIM:300534
Cousin Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Dis...	OMIM:260660
You-Hoover-Fong Syndrome	Vascular ring, Hearing impairment, Clinodactyly, Kyphoscoliosis, Coarctation of aorta, Brachydact...	OMIM:616954
Pontocerebellar Hypoplasia, Type 11	Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella...	OMIM:617695
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormality of the parathyroid gland, ...	ORPHA:3429
Williams-Beuren Syndrome	Premature graying of hair, Recurrent otitis media, Open mouth, Mitral regurgitation, Mitral valve...	OMIM:194050
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
Blomstrand Lethal Chondrodysplasia	Low-set ears, Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protru...	ORPHA:50945
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Costello Syndrome	Low-set ears, Enlarged cerebellum, Micrognathia, Mitral valve prolapse, Ventricular septal defect...	OMIM:218040
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Cleft ala nasi, Convex nasal ridge, Non-midline cle...	ORPHA:2007
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Hearing impairment, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, O...	OMIM:612541
Pde4D Haploinsufficiency Syndrome	Micrognathia, Cryptorchidism, Broad phalanx, Bilateral coxa valga, Hypospadias, Short metacarpal,...	ORPHA:439822
Schwartz-Jampel Syndrome	Elbow dislocation, Pursed lips, Abnormality of the ureter, Micrognathia, Narrow mouth, Genu valgu...	ORPHA:800
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Abnormality of the ureter, Micrognathia, Congenital diaphragmatic hern...	ORPHA:1834
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hearing impairment, Lateral ventricle dilatation, Micrognathia, Narrow mouth, Hip contracture, El...	OMIM:300868
Splenoportal Vascular Anomalies	Hepatic fibrosis, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus	OMIM:271500
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Cerebral cortical atrophy, Abnormal hip bone morphology, Agenesis of corpus callosum, Microcephal...	ORPHA:2508
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Atresia of the external auditory canal, Delayed skeletal maturation, Gonadal dysgene...	ORPHA:1770
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Retinal detachment, Abnormal bone ossification, Flattened epiphysis, Mi...	ORPHA:163649
Oculoskeletodental Syndrome	Short 5th finger, Abnormality of the dentition, Nephrocalcinosis, Clinodactyly, Abnormal thalamus...	ORPHA:557003
Keipert Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Hypoplasia of the ma...	ORPHA:2662
Alagille Syndrome 1	Low-set ears, Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated...	OMIM:118450
Cutis Laxa, Autosomal Recessive, Type Ic	Micrognathia, Breech presentation, Periorbital edema, Rectal prolapse, Osteopenia, Gastroesophage...	OMIM:613177
Hypomandibular Faciocranial Dysostosis	Low-set ears, Bifid uvula, Optic disc coloboma, Abnormal morphology of female internal genitalia,...	ORPHA:1790
Nabais Sa-De Vries Syndrome, Type 2	Low-set ears, Multicystic kidney dysplasia, Micrognathia, Bilateral cleft palate, High palate, Hy...	OMIM:618829
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e...	ORPHA:2839
Bardet-Biedl Syndrome 7	Clinodactyly, Hypogonadism, Narrow mouth, Malar flattening, Polydactyly, 2-3 toe syndactyly, Post...	OMIM:615984
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Open bite, Acute hepatic failure...	ORPHA:2092
Esophageal Atresia	Abnormal vertebral morphology, Hearing impairment, Clinodactyly, Esophagitis, Abnormal gastrointe...	ORPHA:1199
Liang-Wang Syndrome	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Cerebellar atrophy, Downtu...	OMIM:618729
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Hepatic steatosis, Rhabdomyolysis, Sensorineural ...	ORPHA:17
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Polymicrogyria, Ankyloglossia, Unilateral microphthalmos, Malar flattening, Mitral valve prolapse...	OMIM:618874
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Ventriculomegaly, Cerebellar vermis hypoplasia, Diastema, Decreased re...	OMIM:609757
Microphthalmia, Syndromic 1	Low-set ears, Tooth malposition, Joint contracture of the hand, Hearing impairment, Chorioretinal...	OMIM:309800
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Ventriculomegaly, Optic nerve hypoplasia, Everted upper lip vermilion, Gingival overgrowth, Micro...	OMIM:618381
Parkes Weber Syndrome	Myelopathy, Arteriovenous malformation, Lower limb muscle weakness, Abnormal femoral metaphysis m...	ORPHA:90307
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Hepatosplenomegaly, Protei...	OMIM:619858
Intellectual Developmental Disorder, Autosomal Recessive 41	Recurrent pneumonia, Ventriculomegaly, Prominent fingertip pads, Retrognathia, Splenomegaly, Hepa...	OMIM:615637
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Craniosynostosis 6	Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spin...	OMIM:616602
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Xerostomia, Ureterocele, Toe syndactyly, Cryptorchidism, Sparse eyelashes, Absence...	OMIM:129900
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Ventriculomegaly, Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primar...	OMIM:618342
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Hypoplastic left heart, Broad thumb, Intestinal malrotation, Micrognathia, Abnormal aortic morpho...	ORPHA:2001
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Reduced leukocyte arylsulfatase B activity, Hypoplasia of the odontoid proc...	OMIM:253200
Zechi-Ceide Syndrome	Low-set ears, Abnormal helix morphology, Abnormal earlobe morphology, Atrial septal defect, Wide ...	ORPHA:217017
Parietal Foramina 1	Cleft palate, Encephalocele, Cleft upper lip	OMIM:168500
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Ventriculomegaly, Congenital hepatic fibrosis, Renal cyst, Clinodac...	ORPHA:2031
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing...	ORPHA:485
Braddock-Carey Syndrome 2	Retrognathia, Clinodactyly, Microcephaly, Microphthalmia, Wide mouth, Cleft palate, Pierre-Robin ...	OMIM:619981
Juvenile Polyposis Syndrome	Low-set ears, Abnormal onset of bleeding, Arteriovenous malformation, Colon cancer, Clubbing of f...	ORPHA:2929
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia...	ORPHA:49827
Autosomal Recessive Malignant Osteopetrosis	Hearing impairment, Bowing of the long bones, Hepatomegaly, Abnormal metaphysis morphology, Otiti...	ORPHA:667
Craniodiaphyseal Dysplasia, Autosomal Dominant	Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Craniofacial hyperostosis, Craniofacial...	OMIM:122860
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Retrognathia, Hearing impairment, Volvulus, Abnormal odontoid proce...	ORPHA:314621
Crouzon Syndrome	Optic atrophy, Hypoplasia of the maxilla, Choanal atresia, Conductive hearing impairment, Hearing...	ORPHA:207
Li-Ghorbani-Weisz-Hubshman Syndrome	Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Overlapping toe, Prominent nas...	OMIM:618974
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Wrist swelling, Carpal osteolysis, Metacarpal osteolysis, Bilateral el...	OMIM:166300
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Premature birth, Polyhyd...	OMIM:616867
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Myelomeningocele, Micrognathia, Cryptorchidism, Dis...	ORPHA:1752
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Abnormally large globe, Overlapping toe, Cryptorchidism, Agenesis of corpus callosum, Microcephal...	OMIM:300004
Rhizomelic Chondrodysplasia Punctata, Type 2	Micrognathia, Knee contracture, Hip contracture, High palate, Irregular vertebral endplates, Oste...	OMIM:222765
Marshall Syndrome	Low-set ears, Radial bowing, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Sen...	OMIM:154780
Frontometaphyseal Dysplasia	Hypoplasia of the musculature, Joint contracture of the hand, Chiari malformation, Hearing impair...	ORPHA:1826
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Depressed nasal bridge, Hip dislocation, Cerebellar atrophy, Long philtrum, Delayed...	OMIM:608776
Joubert Syndrome With Oculorenal Defect	Nephropathy, Highly arched eyebrow, Iris coloboma, Cerebellar vermis hypoplasia, Chorioretinal co...	ORPHA:2318
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Overlapping toe, Large placenta, Open mouth, Flexion contracture of finger, Coat hanger sign of r...	ORPHA:254528
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Low-set ears, Small hand, Postaxial foot polydactyly, Heari...	OMIM:601803
Dworschak-Punetha Neurodevelopmental Syndrome	Optic disc hypoplasia, Unilateral renal hypoplasia, Vesicoureteral reflux, Agenesis of corpus cal...	OMIM:619955
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Lateral ventricle dilatation, Clinodactyly, Overlapping toe, Micrognat...	ORPHA:177907
Syndactyly-Polydactyly-Earlobe Syndrome	Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple...	OMIM:186350
Stickler Syndrome Type 1	Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal ...	ORPHA:90653
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Sensorineural hearing i...	OMIM:203800
X-Linked Intellectual Disability, Abidi Type	Hearing impairment, Decreased testicular size, Prominent nasal bridge, Protruding ear, Pectus exc...	ORPHA:85273
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Ventriculomegaly, Downturned corners of mouth, Lateral ventricle dilatation, Dilated fourth ventr...	OMIM:613443
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Tongue fasciculations, Spinal muscular atrophy, Ventricu...	OMIM:253300
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Hepatic failure, Red-brown urine, Cardiomyopathy, Polymicrogyria, P...	ORPHA:157
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypogonadism, Co...	ORPHA:79230
Donnai-Barrow Syndrome	Umbilical hernia, Hypoplasia of the iris, Aplasia/Hypoplasia of the corpus callosum, Malar flatte...	OMIM:222448
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Cerebellar atrophy, Exocrine pancreatic insufficiency, Ulnar deviation of the 2...	OMIM:616263
Donohue Syndrome	Precocious puberty, Hepatic fibrosis, Long penis, Thick lower lip vermilion, Cholestasis, Hyperin...	OMIM:246200
Keratoconus Posticus Circumscriptus	Webbed neck, Cleft upper lip, Recurrent urinary tract infections, Vesicoureteral reflux, Limited ...	OMIM:244600
Premature Aging Syndrome, Penttinen Type	Thin ribs, Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Sensorineural...	OMIM:601812
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Gout, Hepatic cysts, Renal ...	OMIM:618061
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Atelectasis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Recurrent respirator...	OMIM:619466
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Optic atrophy, Thoracolumbar kyphosis, Sea-blue histiocytosis, Joint stiffness, Gi...	OMIM:230600
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Flared nostrils, Tooth malposition, Low-set ears, Limitation of joint mobility, ...	ORPHA:480880
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microglossia, Aplasia/Hypoplasia of the radius, Microretrognathia, Ren...	ORPHA:1307
Gorlin Syndrome	Abnormal vertebral morphology, Palmar pits, Carious teeth, Cryptorchidism, Abnormality of the nec...	ORPHA:377
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Long philtrum, Elevated circulating thyroid-stimulating ...	OMIM:610199
Takenouchi-Kosaki Syndrome	Clinodactyly, Overlapping toe, Cryptorchidism, Hypoplasia of the corpus callosum, Hypospadias, Do...	OMIM:616737
Temple-Baraitser Syndrome	Depressed nasal bridge, Short distal phalanx of finger, Gastroesophageal reflux, Broad thumb, Dow...	OMIM:611816
Zimmermann-Laband Syndrome 1	Low-set ears, Aortic root aneurysm, Hearing impairment, Hepatomegaly, High palate, Gingival fibro...	OMIM:135500
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Agenesis of corpu...	ORPHA:95494
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora...	ORPHA:199241
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Ventriculomegaly, Microretrognathia, Polysplenia, Ex...	OMIM:619418
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Cerebral atrophy, Long philtrum, Basal ganglia cysts, Agenesis of corpus callos...	OMIM:312170
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Rod-cone dystr...	ORPHA:168549
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Agenesis of corpus callosum, Macular hypoplasia, Colpocephaly, Microcephaly, Hy...	OMIM:615219
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Narrow mouth, Spinal muscul...	OMIM:616866
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Optic disc coloboma, Pursed lips, Aglossia, ...	OMIM:241310
Noonan Syndrome 1	Low-set ears, Hearing impairment, Clinodactyly, Micrognathia, Cryptorchidism, Ventricular septal ...	OMIM:163950
Coffin-Siris Syndrome 12	Low-set ears, Broad thumb, Chiari malformation, Velopharyngeal insufficiency, Delayed cranial sut...	OMIM:619325
Joubert Syndrome 22	Renal hypoplasia, Postaxial foot polydactyly, Temporal cortical atrophy, Hypoplasia of the corpus...	OMIM:615665
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Supernumerary nipple, Cryptorchidism, Hypoplasia of the corpus cal...	OMIM:618109
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus callosum, Hydroc...	OMIM:617542
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Dilated third ventricle, Ventricular septal defect, Short neck, Molar...	ORPHA:434179
Cutis Laxa, Autosomal Recessive, Type Iic	Low-set ears, Hand clenching, Narrow naris, Biventricular hypertrophy, Overlapping toe, Narrow mo...	OMIM:617402
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Chylothorax, Arteriovenous malformation, Abnormal bleeding, Congestive heart failure, ...	ORPHA:137667
Potocki-Lupski Syndrome	Mandibular prognathia, Gastroesophageal reflux, Dental malocclusion, Dental crowding, Hearing imp...	OMIM:610883
Hydrocephalus, Congenital, X-Linked	Corticospinal tract hypoplasia, Thumb contracture, Absent septum pellucidum, Agenesis of corpus c...	OMIM:307000
Trichothiodystrophy 4, Nonphotosensitive	Cerebral cortical atrophy, Retrognathia, Ventricular septal defect, Microcephaly, Microphthalmia,...	OMIM:234050
Renpenning Syndrome 1	Joint contracture of the hand, Hearing impairment, Micrognathia, Narrow mouth, Ventricular septal...	OMIM:309500
Otopalatodigital Syndrome Type 1	Limitation of joint mobility, Hearing impairment, Elbow dislocation, Synostosis of carpal bones, ...	ORPHA:90650
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Christianson Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Aplasia/Hypoplasia of the corpus...	ORPHA:85278
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Micrognathia, Talipes equinovarus, Bilateral talipes equinovarus, Premature rupture of membranes,...	OMIM:618343
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dry hair, Myofiber disarray, Mitral regurgitation, Ventricular septal defect, Woolly scalp hair, ...	OMIM:620519
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Ce...	OMIM:610333
8P11.2 Deletion Syndrome	Micrognathia, Cryptorchidism, Mitral valve prolapse, Talipes equinovarus, Spherocytosis, Atrial s...	ORPHA:251066
Microcephaly 13, Primary, Autosomal Recessive	Small hand, Restrictive cardiomyopathy, Metaphyseal sclerosis, Micrognathia, Cerebellar hypoplasi...	OMIM:616051
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o...	OMIM:170390
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor...	OMIM:620317
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia	OMIM:611884
Loeys-Dietz Syndrome 1	Low-set ears, Hypoplasia of the musculature, Aortic root aneurysm, Chiari malformation, Micrognat...	OMIM:609192
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Hydroureter, Hearing impairment, Cardiomyopathy, Limited m...	OMIM:222300
Nail-Patella Syndrome	Patellar aplasia, Hematuria, Talipes equinovarus, Disproportionate prominence of the femoral medi...	OMIM:161200
Fetal Alcohol Syndrome	Micrognathia, Microdontia, Thin upper lip vermilion, Smooth philtrum, Microcephaly, Atrial septal...	ORPHA:1915
Chiari Malformation Type Ii	Cervical myelopathy, Chiari malformation, Myelomeningocele, Agenesis of corpus callosum, Hydrocep...	OMIM:207950
Craniodiaphyseal Dysplasia	Wide nasal bridge, Optic atrophy, Craniofacial hyperostosis, Depressed nasal bridge, Conductive h...	ORPHA:1513
Spinocerebellar Ataxia 23	Cerebellar atrophy, Agenesis of corpus callosum	OMIM:610245
Mend Syndrome	Asymmetry of the mouth, Aortic valve stenosis, Broad hallux, Abnormal heart morphology, Overlappi...	ORPHA:401973
Mowat-Wilson Syndrome	Tooth malposition, Chorioretinal coloboma, Supernumerary nipple, Recurrent otitis media, Cryptorc...	OMIM:235730
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Delayed cranial suture closure, Hypopituitarism, Decreased circulati...	ORPHA:226307
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Intervertebral di...	OMIM:613795
Pfeiffer Syndrome	Shortening of all middle phalanges of the fingers, Broad thumb, Dental crowding, Finger syndactyl...	OMIM:101600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimm...	OMIM:619313
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiph...	ORPHA:397973
Senior-Loken Syndrome	Chronic kidney disease, Cone-shaped epiphysis, Nephronophthisis, Stage 5 chronic kidney disease, ...	ORPHA:3156
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Purpura	ORPHA:3204
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Dextrocardia, Recurrent respirat...	OMIM:615444
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Dextrocardia, Sinusitis, Recurrent respiratory infections, Bronchiectasis	OMIM:606763
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
49,Xxxyy Syndrome	Male hypogonadism, Abnormality of the testis size, Recurrent upper respiratory tract infections, ...	ORPHA:261534
Spastic Paraplegia 50, Autosomal Recessive	Mandibular prognathia, Ventriculomegaly, Cerebellar atrophy, Hypoplasia of the corpus callosum, T...	OMIM:612936
49,Xyyyy Syndrome	Short 5th finger, Male hypogonadism, Abnormality of the testis size, Recurrent upper respiratory ...	ORPHA:99330
Carpenter Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Polysplenia, Umbilical hernia, Preaxial foot poly...	ORPHA:65759
Lacrimoauriculodentodigital Syndrome	Low-set ears, Carious teeth, Xerostomia, Toe syndactyly, Finger syndactyly, Clinodactyly, Microgn...	ORPHA:2363
Alpha-Mannosidosis, Infantile Form	Chiari malformation, Abnormality of the sphenoid sinus, Hepatosplenomegaly, Pancytopenia, Genu va...	ORPHA:309282
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Conical tooth, Carious teeth, Palmoplantar keratoderma...	OMIM:129400
Diphallia	Cryptorchidism, Atrial septal defect, Rectoperineal fistula, Anal atresia, Hypospadias, Epispadia...	ORPHA:227
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Acrodysostosis	Open bite, Open mouth, Cryptorchidism, Bowing of the long bones, Abnormal metacarpal morphology, ...	ORPHA:950
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Decreased response to growth hormone stimulation test, Mitral stenosis, Hypopla...	OMIM:617260
Bardet-Biedl Syndrome 10	Hypogonadism, Renal cyst, Renal insufficiency, Polydactyly	OMIM:615987
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port...	OMIM:617394
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Low-set ears, Choanal atresia, Iris coloboma, Cupped ear, Retrognathia, Optic disc coloboma, Hear...	ORPHA:52055
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Sparse hair, Mandibular prognathia, Gastroesophageal reflux, Broad thumb,...	OMIM:619721
Coffin-Siris Syndrome 7	Low-set ears, Hearing impairment, Recurrent otitis media, Ventricular septal defect, Bicuspid aor...	OMIM:618027
Loeys-Dietz Syndrome 4	Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Eosinophilic ...	OMIM:614816
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the corpus c...	OMIM:612513
Atkin-Flaitz Syndrome	Abnormality of the dentition, Broad nasal tip, Anteverted nares, Everted lower lip vermilion, Thi...	ORPHA:1193
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Low-set ears, Ventricular septal defect, Sensorineural hearing impairment, Agenesis of corpus cal...	OMIM:300472
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Cleft lip, Prominent fingertip pads, Retrognathia, Supernumerary nipple, Joint contracture of the...	OMIM:620098
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Spastic Paraplegia 11, Autosomal Recessive	Cerebral cortical atrophy, Urinary bladder sphincter dysfunction, Abnormal periventricular white ...	OMIM:604360
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Dicarboxylic aciduria, Hepatocellular necrosis, Hypertrophic cardiomyopathy,...	OMIM:201475
Beta-Mercaptolactate Cysteine Disulfiduria	Hypoplasia of the ear cartilage, Sandal gap, Micromelia, Umbilical hernia, Low-set, posteriorly r...	ORPHA:1035
Acitretin/Etretinate Embryopathy	Hypoplastic nasal septum, Micrognathia, Aplasia/hypoplasia involving bones of the upper limbs, Bi...	ORPHA:40366
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebral cortic...	ORPHA:370968
Seizures-Scoliosis-Macrocephaly Syndrome	Abnormality of the outer ear, Gastroesophageal reflux, Long philtrum, Bulbous nose, Overlapping t...	ORPHA:466926
Maxillonasal Dysplasia	Short distal phalanx of finger, Hypoplasia of the maxilla, Tooth agenesis, Open bite, Microdontia...	ORPHA:1248
Intellectual Developmental Disorder, Autosomal Dominant 23	Low-set ears, Micrognathia, Hypospadias, Downturned corners of mouth, Bulbous nose, Low anterior ...	OMIM:615761
Oculodentodigital Dysplasia, Autosomal Recessive	Low-set ears, Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathi...	OMIM:257850
Intrahepatic Cholestasis Of Pregnancy	Meconium stained amniotic fluid, Elevated circulating hepatic transaminase concentration, Abnorma...	ORPHA:69665
Delpire-Mcneill Syndrome	Cortical dysplasia, Ventricular septal defect, Hip dislocation, Agenesis of corpus callosum	OMIM:619083
Brooke-Spiegler Syndrome	Abnormal bleeding, Hearing impairment, Abnormality of the submandibular glands, Salivary gland ne...	ORPHA:79493
Odontochondrodysplasia	Platyspondyly, Depressed nasal bridge, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square p...	ORPHA:166272
Grubben-De Cock-Borghgraef Syndrome	Abnormality of the dentition, Small hand, Deviation of finger, Partial agenesis of the corpus cal...	ORPHA:2101
Fanconi Anemia, Complementation Group D2	Absent thumb, Short thumb, Annular pancreas, Preaxial hand polydactyly, Horseshoe kidney, Abnorma...	OMIM:227646
Amoebiasis Due To Free-Living Amoebae	Abducens palsy, Arrhythmia, Nuchal rigidity, Cerebral edema, Abnormal midbrain morphology, Increa...	ORPHA:68
Meckel Syndrome 12	Bifid uvula, Renal hypoplasia, Cerebral hypoplasia, Micrognathia, Agenesis of corpus callosum, Ce...	OMIM:616258
Saethre-Chotzen Syndrome	Low-set ears, Broad thumb, Hearing impairment, Finger syndactyly, Prominent crus of helix, Open b...	ORPHA:794
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh...	OMIM:251450
Trichothiodystrophy	High, narrow palate, Diffuse cerebellar atrophy, Ventriculomegaly, Carious teeth, Cerebral cortic...	ORPHA:33364
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Long philtrum, Hypoplasia of the brainstem, Tented upper lip vermil...	OMIM:620001
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:98908
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Wide nasal bridge, Accessory spleen, Low-set ears, Cerebellar vermis hypoplasia, Optic disc hypop...	OMIM:619306
Joubert Syndrome 21	Occipital encephalocele, Hypoplasia of the brainstem, Splenomegaly, Encephalocele, Chronic sinusi...	OMIM:615636
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Iris coloboma, Alopecia, Restrictive cardiomyopathy, Clinodactyly, Flexion contracture, Depressed...	ORPHA:88630
Familial Visceral Myopathy	Hyperparathyroidism, Narrow chest, Hydroureter, Abdominal situs inversus, Umbilical hernia, Low-s...	ORPHA:2604
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te...	OMIM:617102
Diaphanospondylodysostosis	Enlarged thorax, Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, S...	ORPHA:66637
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Oral ulcer, Abnormality of the neck, Neutropenia, Hepatomegaly, V...	ORPHA:50918
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Unilateral renal agenesis, Broad nasal tip, Gonadal dysgenesis, Hypogonadism,...	ORPHA:3306
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Dilatation of the renal pelvis, Hearing impairment, Short 5th toe, Cleft s...	ORPHA:268261
Stickler Syndrome, Type I	Micrognathia, Mitral valve prolapse, Sensorineural hearing impairment, Arachnodactyly, Beaking of...	OMIM:108300
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Hallermann-Streiff Syndrome	Low-set ears, Thin ribs, Natal tooth, Chorioretinal coloboma, Micrognathia, Narrow mouth, Cryptor...	OMIM:234100
Insulin-Like Growth Factor I, Resistance To	Low-set ears, Small hand, Clinodactyly, Micrognathia, Narrow mouth, Ventricular septal defect, At...	OMIM:270450
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Cryptorchidism, Agenesis of corpus callosum, Elbow ankylosis, Abnormal metacar...	ORPHA:2658
Whistling Face Syndrome, Recessive Form	Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Unde...	OMIM:277720
Orofacial Cleft 14	Median cleft upper lip	OMIM:615892
Noonan Syndrome 8	Low-set ears, Webbed neck, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Pleural effu...	OMIM:615355
Isolated Pierre Robin Syndrome	Micrognathia, Cleft palate, Glossoptosis	ORPHA:718
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Ventricular septal defect, Everte...	OMIM:608670
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Cerebellar agenesis, Redundant neck skin, Cerebellar hypoplasia, Hydrocephalus, ...	OMIM:617967
Acrodysostosis 1 With Or Without Hormone Resistance	Hearing impairment, Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hor...	OMIM:101800
Microhydranencephaly, X-Linked	Fetal akinesia sequence, Holoprosencephaly, Multiple joint contractures, Decreased fetal movement	OMIM:306990
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Micrognathia, Genu valgum, De...	ORPHA:1452
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Aplasia/Hypoplasia of the lungs, Coarse metaphyseal trabeculariza...	ORPHA:2635
Coffin-Siris Syndrome 5	Depressed nasal bridge, Short distal phalanx of finger, Dystrophic toenail, Sandal gap, Thick low...	OMIM:616938
Cataract-Intellectual Disability-Hypogonadism Syndrome	Depressed nasal bridge, Tooth malposition, Ulnar deviation of finger, Low-set, posteriorly rotate...	ORPHA:1387
Diaphragmatic Hernia 4, With Cardiovascular Defects	Low-set ears, Aortic root aneurysm, Finger syndactyly, Micrognathia, Cryptorchidism, Ventricular ...	OMIM:620025
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Dental crowding, Downturned corners of mouth, Clinodactyly, Thick lower lip vermil...	ORPHA:261323
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Coarctation of aorta, Right aortic arch, Supraumbilical raphe	OMIM:140850
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism, Holoprosencephaly, Limited elbow extension, Tapered finger	OMIM:300706
Bardet-Biedl Syndrome 16	Bronchiolitis, Hearing impairment, Renal agenesis, Hypogonadism, Recurrent otitis media, External...	OMIM:615993
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal pelvis bone ossification, Micrognathia, Cryptorchidism, Congenital hepatic fibrosis, Age...	ORPHA:93271
Genitourinary And/Or Brain Malformation Syndrome	Low-set ears, Abnormality of the outer ear, Clitoral hypertrophy, Chiari malformation, Ileal atre...	OMIM:618820
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum, Cryptorchidism	ORPHA:1568
Atelosteogenesis, Type Iii	Rhizomelia, Tombstone-shaped proximal phalanges, Hypoplasia of the maxilla, Elbow dislocation, Ra...	OMIM:108721
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hearing impairment, Chorioretinal coloboma, Ankyloglossia, Peripheral demyelination, Genu valgum,...	OMIM:619475
Musculocontractural Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Hearing impairment, Decreased muscle mass, Abnormal mesentery morpholog...	ORPHA:2953
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Low-set ears, Aplastic anemia, Ventricular septal defect, Short ne...	OMIM:300514
Laubry-Pezzi Syndrome	Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul...	ORPHA:99094
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Atrial septal defect, Short nose, Downturned corners of mouth, Protrud...	OMIM:301030
Van Maldergem Syndrome 2	Hearing impairment, Atresia of the external auditory canal, Clinodactyly, Cutaneous finger syndac...	OMIM:615546
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Preaxial hand polydactyly, Secondary microcephaly, Micrognathia, Malar...	ORPHA:79113
Atrial Septal Defect 4	Coarctation of aorta, Atrial septal defect, Patent foramen ovale	OMIM:611363
Bardet-Biedl Syndrome 11	Hypogonadism, Polydactyly	OMIM:615988
Warburg Micro Syndrome 3	Cerebral cortical atrophy, Ventriculomegaly, Downturned corners of mouth, Polymicrogyria, Seconda...	OMIM:614222
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Short tibia, Cryptorchidism, Sensorineural hearing impairment, Talipes equinovarus...	OMIM:607143
Orofaciodigital Syndrome Type 4	Low-set ears, Abnormality of the outer ear, Aplasia/Hypoplasia of the tibia, Finger syndactyly, A...	ORPHA:2753
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Flexion contracture of finger, ...	ORPHA:464311
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Micrognathia, Hepatic steatosis, Rhabdomyolysis, Ventricular septal defec...	OMIM:614921
Meier-Gorlin Syndrome 7	Low-set ears, Clitoral hypertrophy, Hearing impairment, Narrow mouth, Cryptorchidism, Ventricular...	OMIM:617063
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Chronic sinusitis, Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, Dilated cardiom...	OMIM:618348
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Optic nerve hypoplasia, Dilated cardiomyopathy, Long philtrum, Micrognathia, Cr...	ORPHA:261250
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Finger syndactyly, Narrow mouth, Cryptorchidism, Arachnodactyly, Talipes equinovar...	ORPHA:2215
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Clitoral hypertrophy, Hearing impairment, Colonic atresia, Congen...	OMIM:309801
Atelosteogenesis, Type I	Low-set ears, Elbow dislocation, Radial bowing, Fibular aplasia, Micrognathia, Bell-shaped thorax...	OMIM:108720
Gm1-Gangliosidosis, Type I	Cherry red spot of the macula, Short neck, Beaking of vertebral bodies, Hepatomegaly, Depressed n...	OMIM:230500
Duane Retraction Syndrome	Hearing impairment, Chorioretinal coloboma, Micrognathia, Sensorineural hearing impairment, Low p...	ORPHA:233
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Genu recurvatum, Mandibular prognathia, Pectus carinatum, Aortic root aneur...	OMIM:609008
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Low-set ears, Hepatosplenomegaly, Micrognathia, Cryptorchidism, Ventricular septal defect, Short ...	ORPHA:1655
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Preaxial hand polydactyly, Mirror...	ORPHA:2378
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Abnormality of the dentition, Dilated cardiomyopathy, Oral leukoplakia, Urethra...	OMIM:613989
Brachydactyly-Preaxial Hallux Varus Syndrome	Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Abnormal palate morpholog...	ORPHA:1278
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Alopecia, Dental crowding, Cupped ear...	OMIM:616367
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Bilateral Striopallidodentate Calcinosis	Ventriculomegaly, Abnormality of the liver, Cerebral calcification, Microcephaly, Hepatomegaly	ORPHA:1980
Hamamy Syndrome	Low-set ears, Hypochromic anemia, Microcytic anemia, Micrognathia, Cryptorchidism, Mitral regurgi...	OMIM:611174
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Bartsocas-Papas Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Micrognathia, Narrow mouth, Median cleft upper l...	ORPHA:1234
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid ca...	OMIM:300952
Kagami-Ogata Syndrome	Limitation of joint mobility, Pursed lips, Large placenta, Micrognathia, Bell-shaped thorax, Hepa...	ORPHA:254519
Microphthalmia, Isolated 4	Postaxial polydactyly, Absent testis, Microphthalmia	OMIM:613094
Seckel Syndrome 9	Clitoral hypertrophy, Pulmonary artery hypoplasia, Hypertrichosis, Recurrent urinary tract infect...	OMIM:616777
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Tongue atrophy, Tongue fasciculations...	OMIM:601596
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Optic atrophy, Dilated cardiomyopathy, Congestive heart failure, Normo...	OMIM:610198
Congenital Myopathy 11	Elevated circulating hepatic transaminase concentration, Patent foramen ovale, Weakness of facial...	OMIM:619967
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Neurocardiofaciodigital Syndrome	Cerebellar vermis hypoplasia, Sparse eyebrow, Retrognathia, Hearing impairment, Lateral ventricle...	OMIM:619869
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Small scrotum, Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Hepatobla...	OMIM:269150
Achondrogenesis Type 1B	Narrow chest, Abnormal enchondral ossification, Long philtrum, Umbilical hernia, Micromelia, Shor...	ORPHA:93298
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar...	ORPHA:449400
Alzahrani-Kuwahara Syndrome	Low-set ears, Coronary sinus enlargement, Hearing impairment, Long philtrum, Bulbous nose, Promin...	OMIM:619268
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Inferior cerebellar vermis hypoplasia, Cleft lip, Microretrognathia, Downturned corners of mouth,...	OMIM:618571
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo...	ORPHA:508533
Noonan Syndrome 5	Low-set ears, Depressed nasal bridge, Mandibular prognathia, Sparse eyebrow, Webbed neck, Fine ha...	OMIM:611553
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Death in childhood, Renal cyst, Cirrhosi...	OMIM:602579
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Adducted thumb, Aqueductal ...	ORPHA:2182
Miller-Dieker Lissencephaly Syndrome	Low-set ears, Joint contracture of the hand, Thick upper lip vermilion, Micrognathia, Cryptorchid...	OMIM:247200
Macdermot-Winter Syndrome	Ventriculomegaly, Camptodactyly of finger, Death in infancy, Hydronephrosis, Microcephaly	OMIM:247990
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Aplasia/Hypoplasia of the earlobes, Elbow dislocation, Abnormal antihelix morphology, Low posteri...	ORPHA:2916
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Preaxial polydactyly, Cerebellar vermis atrophy, Periventricular leukomalacia...	ORPHA:163681
Pyruvate Dehydrogenase E1-Beta Deficiency	Ventriculomegaly, Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cy...	ORPHA:255138
48,Xxyy Syndrome	Broad jaw, Ventriculomegaly, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Thick l...	ORPHA:10
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Cleft soft palate, Micrognathia, Smooth philtrum, Brachydactyly, Atrial septal defec...	OMIM:614526
Vissers-Bodmer Syndrome	Tapered finger, Holoprosencephaly, Premature birth	OMIM:619033
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal hair ...	ORPHA:3082
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Abdominal aortic aneurysm, Intervertebral disk degeneration, Congenital ...	OMIM:619656
Joubert Syndrome 10	Wide nasal bridge, Low-set ears, Cerebellar vermis hypoplasia, Postaxial foot polydactyly, Conduc...	OMIM:300804
Cutis Laxa, Autosomal Recessive, Type Iib	Congenital hip dislocation, Long philtrum, Malar flattening, Agenesis of corpus callosum, Bowing ...	OMIM:612940
Skin Creases, Congenital Symmetric Circumferential, 1	Long philtrum, Cerebellar vermis atrophy, Micrognathia, Narrow mouth, Hypoplasia of the corpus ca...	OMIM:156610
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Micrognathia, Tented upper lip vermilion, Acetabular dysplasia, Exaggerated cup...	OMIM:619833
Timothy Syndrome	Pneumonia, Depressed nasal bridge, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Paten...	OMIM:601005
Odontochondrodysplasia 1	Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ...	OMIM:184260
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Thin upper lip vermilion, Talipes equin...	OMIM:277380
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Gastrointestinal carcinoma, Aortic dissection, Mitral regurgitation, Mit...	OMIM:175050
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Supernumerary nipple, Genu valgum, Cryptorchidism, Hip contracture, Agenesis of corpus callosum, ...	OMIM:619194
Diamond-Blackfan Anemia 7	Hearing impairment, Atresia of the external auditory canal, Recurrent otitis media, Esophagitis, ...	OMIM:612562
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Anop...	ORPHA:2470
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Goldberg-Shprintzen Syndrome	Low-set ears, Small hand, Ventricular septal defect, Short neck, Everted lower lip vermilion, Spa...	OMIM:609460
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Ventriculomegaly, Arachnodactyly, Glomerulonephritis, Primary microcephal...	ORPHA:2172
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Long philtrum, Limited elbow flexion, Rhizomelic arm sh...	OMIM:164745
Baller-Gerold Syndrome	Abnormal vertebral morphology, Low-set ears, Lambdoidal craniosynostosis, Chiari malformation, Ca...	OMIM:218600
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Cooper-Jabs Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Um...	ORPHA:1488
Al Kaissi Syndrome	Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Broad nasal tip, Low-set ears, Sm...	OMIM:617694
Perlman Syndrome	Low-set ears, Everted upper lip vermilion, Nephrogenic rest, Micrognathia, Open mouth, Cryptorchi...	OMIM:267000
Cerebrocostomandibular Syndrome	Low-set ears, Carious teeth, Cleft soft palate, Micrognathia, Bell-shaped thorax, Ventricular sep...	OMIM:117650
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Ventriculomegaly, Natal tooth, Chiari malformation, Overlapping toe, Gingival overgr...	OMIM:123790
Bartsocas-Papas Syndrome 2	Small hand, Micrognathia, Absent distal phalanges, Bilateral cleft palate, Bilateral cleft lip, 2...	OMIM:619339
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Low-set ears, Micrognathia, Cryptorchidism, Ventricular septal defect, Absent eyelashes, Absent e...	ORPHA:166035
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Low-set ears, Abnormality of the outer ear, Small hand, Broad thumb, Micrognathia, Narrow mouth, ...	ORPHA:251028
Townes-Brocks Syndrome	Abnormal vertebral morphology, Toe syndactyly, Chiari malformation, Abnormal vagina morphology, H...	ORPHA:857
Noonan Syndrome 11	Low-set ears, Depressed nasal bridge, Hypertrophic cardiomyopathy, Bulbous nose, Palmoplantar cut...	OMIM:618499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebral cortical atrophy, Open mouth, Cryptorchi...	OMIM:613156
Distal 22Q11.2 Microduplication Syndrome	Low-set ears, Abnormal helix morphology, Toe syndactyly, Micrognathia, Cryptorchidism, Abnormal a...	ORPHA:261337
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Bilateral microphthalmos, Cerebellar vermis atrophy, Diffuse cerebr...	ORPHA:77299
Meier-Gorlin Syndrome 1	Low-set ears, Thin ribs, Clitoral hypertrophy, Joint contracture of the hand, Small hand, Hearing...	OMIM:224690
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Limitation of joint m...	ORPHA:740
Mosaic Trisomy 20	Hearing impairment, Clinodactyly, Long neck, Micrognathia, Cryptorchidism, Abnormal mitral valve ...	ORPHA:1724
Kleefstra Syndrome 1	Natal tooth, Hearing impairment, Cryptorchidism, Protruding tongue, Talipes equinovarus, Everted ...	OMIM:610253
Dyssegmental Dysplasia, Silverman-Handmaker Type	Low-set ears, Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Encepha...	ORPHA:1865
Biemond Syndrome Ii	Abnormality of the endocrine system, Hydrocephalus, Preaxial hand polydactyly	OMIM:210350
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Spondylo-Ocular Syndrome	Platyspondyly, Low-set ears, Webbed neck, Long philtrum, Abnormal eyebrow morphology, Facial hypo...	ORPHA:85194
Galloway-Mowat Syndrome 3	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Pachygyria, Micrognathia, Narrow mouth, S...	OMIM:617729
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, High palate, Microcephaly, Subependymal cysts	OMIM:245349
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Cleft upper lip, Micrognathia, Cerebellar cyst, Ectopic kidney, Cleft ...	OMIM:601076
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Open mouth, Cryptorchidism, Sensorineural hearing impairment, Lumbar scoliosis, Bre...	OMIM:617796
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ...	ORPHA:84064
Monosomy 9Q22.3	Palmar pits, Ventriculomegaly, Chiari malformation, Delayed eruption of teeth, Long philtrum, Umb...	ORPHA:77301
Johnson Neuroectodermal Syndrome	Sparse hair, Choanal atresia, Anosmia, Carious teeth, Conductive hearing impairment, Atresia of t...	ORPHA:2316
Combined Oxidative Phosphorylation Deficiency 47	Platyspondyly, Low-set ears, Elevated circulating hepatic transaminase concentration, Toe syndact...	OMIM:618958
Andersen-Tawil Syndrome	Low-set ears, Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes...	ORPHA:37553
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Micrognathia, Death in childhood, Microcephaly, Microphthalmia, Micropen...	OMIM:610756
Mitochondrial Complex I Deficiency, Nuclear Type 16	Adrenal insufficiency, Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Dysosteosclerosis	Platyspondyly, Optic atrophy, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, De...	ORPHA:1782
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Lissencephaly, Abnormal cortical gyration, Broad thumb, Finger syndact...	ORPHA:2211
Kleefstra Syndrome Due To A Point Mutation	Precocious puberty, Abnormality of the dentition, Ventriculomegaly, Natal tooth, Thick lower lip ...	ORPHA:261652
Immunodeficiency 49	Reduced cerebral white matter volume, Natal tooth, Umbilical hernia, Micrognathia, Agenesis of co...	OMIM:617237
Frontoocular Syndrome	Low-set ears, Coronal craniosynostosis, Micrognathia, Prominent nasal bridge, Narrow mouth, Narro...	OMIM:605321
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
Noonan Syndrome 7	Low-set ears, Low posterior hairline, Short neck, Atrial septal defect, Curly hair, Dysphagia, Pe...	OMIM:613706
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Micrognathia, Congenital hepatic fibrosis, Hepato...	ORPHA:731
Rhizomelic Limb Shortening With Dysmorphic Features	Wide nasal bridge, Short 5th finger, Rhizomelia, Prominent fingertip pads, Long philtrum, Stage 1...	OMIM:618821
Arthrogryposis, Distal, Type 12	Low-set ears, Cryptorchidism, Mitral valve prolapse, Hand muscle atrophy, Talipes equinovarus, Hi...	OMIM:620545
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly	OMIM:615991
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Nager Syndrome	Unilateral renal agenesis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasi...	ORPHA:245
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Hepatomegaly, Elevated bronchoalveolar lavage ...	OMIM:181000
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Ventriculomegaly, Micromelia, Cryptorchidism, Ventricular septal defect, ...	ORPHA:2772
Fanconi Anemia, Complementation Group S	Dental malocclusion, Clinodactyly, Thick upper lip vermilion, Macrodontia, Ovarian carcinoma, Mic...	OMIM:617883
Pai Syndrome	Bifid uvula, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Median cleft upper lip, Ab...	ORPHA:1993
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Lateral ventricle dilatation, Hypoplast...	OMIM:277590
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cleft lip, Cutaneous syndactyly of toes, Cleft upper lip, Cutaneous finger syndactyly, Micrognath...	OMIM:225060
Myhre Syndrome	Craniofacial hyperostosis, Narrow mouth, Cryptorchidism, Hypospadias, Epispadias, Precocious pube...	ORPHA:2588
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Widely spaced teeth, Mitral valve prolapse, Oligodontia, Microdontia, ...	OMIM:601216
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Supernumerary nipple, Open mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect...	ORPHA:466791
Campomelic Dysplasia	Low-set ears, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic c...	OMIM:114290
Hajdu-Cheney Syndrome	Low-set ears, Micrognathia, Narrow mouth, Cryptorchidism, Genu valgum, Ventricular septal defect,...	OMIM:102500
Pyle Disease	Platyspondyly, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of...	OMIM:265900
Spastic Paraplegia 47, Autosomal Recessive	Ventriculomegaly, Abnormal periventricular white matter morphology, Acetabular dysplasia, Hypopla...	OMIM:614066
Cerebrofaciothoracic Dysplasia	Low posterior hairline, Short neck, Sprengel anomaly, Short nose, Wide nose, Cerebellar vermis hy...	ORPHA:1394
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of finger, Hypoplasia of the maxilla, Camptodactyly of finger, Abnormality of the...	ORPHA:1529
Brain-Lung-Thyroid Syndrome	Agenesis of corpus callosum, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism,...	ORPHA:209905
Histiocytoid Cardiomyopathy	Cerebellar malformation, Congenital aphakia, Agenesis of corpus callosum, Pulmonary edema, Polycy...	ORPHA:137675
Alkaptonuria	Aortic valve calcification, Elevated urinary homogentisic acid, Limited hip movement, Decreased g...	OMIM:203500
Combined Oxidative Phosphorylation Deficiency 37	Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Decreased liver func...	OMIM:618329
Bilateral Polymicrogyria	Low-set ears, Difficulty in tongue movements, Aplasia/Hypoplasia of the brainstem, Arthrogryposis...	ORPHA:268940
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hearing impairment, Medial calcification of large arteries, Osteomalacia...	ORPHA:51608
Focal Facial Dermal Dysplasia Type Iv	Microcephaly, Cleft palate, Hydrocephalus, Cleft upper lip	ORPHA:398189
Ramos-Arroyo Syndrome	Depressed nasal bridge, High anterior hairline, Carious teeth, Xerostomia, Smooth tongue, Long ph...	ORPHA:1051
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Hearing impairment, Delayed cranial suture closure,...	ORPHA:2484
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Lymphatic Malformation 6	Hearing impairment, Micrognathia, Atrial septal defect, Periorbital edema, Abnormal pinna morphol...	OMIM:616843
Orofaciodigital Syndrome Ix	Abnormality of the dentition, Recurrent aspiration pneumonia, Toe syndactyly, Short tibia, Median...	OMIM:258865
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Low-set ears, Lateral ventricle dilatation, Sensorineural hearing impairment, Atrial septal defec...	OMIM:620075
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Chronic kidney disease, Finger syndactyly, Type II diab...	ORPHA:110
Criss-Cross Heart	Abnormal thorax morphology, Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve...	ORPHA:1461
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Abnormality o...	OMIM:618641
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Depressed nasal bridge, Coarse metaphyseal trabecularization, Ectopic anterior pituitary gland, S...	OMIM:620558
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Exerci...	OMIM:607155
Sarcoidosis	Abnormal lymph node morphology, Abnormal pleura morphology, Abnormal reproductive system morpholo...	ORPHA:797
Omodysplasia 1	Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn...	OMIM:258315
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Avascular necrosis of the capital femoral epiphys...	OMIM:619377
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sensorin...	ORPHA:2072
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Abnormality of the dentition, Microphthalmia	OMIM:251700
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Pancreatic Agenesis-Holoprosencephaly Syndrome	Neonatal insulin-dependent diabetes mellitus, Semilobar holoprosencephaly, Hypoplasia of the zygo...	ORPHA:556955
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinuria, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Death in childhood, Death...	OMIM:616034
Raine Syndrome	Low-set ears, Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow ...	OMIM:259775
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Chiari malformation, Delayed pubic bone ossification, Elevated circulating alk...	OMIM:618162
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Microglossia, Aspiration pneumonia, Temporomandibular joint ankylo...	ORPHA:141152
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Webbed neck, Cleft upper lip, Recurrent urinary tract infect...	ORPHA:33001
Mucopolysaccharidosis Type 4	Carious teeth, Hearing impairment, Genu valgum, Bowing of the long bones, Short neck, Pectus cari...	ORPHA:582
Nizon-Isidor Syndrome	High, narrow palate, Downturned corners of mouth, Prominent fingertip pads, Open mouth, Narrow mo...	OMIM:618872
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Ventriculomegaly, Global brain atrophy, Death in infancy, Hyperintensity of cerebral white matter...	OMIM:611722
Joubert Syndrome 13	Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi...	ORPHA:264580
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Hydrometrocolpos, Cr...	ORPHA:2473
Foxg1 Syndrome Due To 14Q12 Microdeletion	Tented upper lip vermilion, Agenesis of corpus callosum, Smooth philtrum, Microcephaly, Everted l...	ORPHA:261144
Microcephaly 20, Primary, Autosomal Recessive	Small cerebral cortex, Renal hypoplasia, Ureteral agenesis, Simplified gyral pattern, Hypoplasia ...	OMIM:617914
Intellectual Developmental Disorder, Autosomal Dominant 22	Micrognathia, Agenesis of corpus callosum, Thin upper lip vermilion, Smooth philtrum, Microcephal...	OMIM:612337
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia...	ORPHA:3104
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Small hand, Unilateral cleft lip, Finger syndactyly, Micrognathia, Malar fla...	ORPHA:1787
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Pectus carinatum, Gastroesophageal reflux, Prominent fingertip pads, Underdeveloped nasal alae, M...	OMIM:300986
Septo-Optic Dysplasia Spectrum	Cryptorchidism, Absent septum pellucidum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the ...	ORPHA:3157
3M Syndrome	Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Hypospadias, Abnormality ...	ORPHA:2616
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Osteopenia, Hip dislocation, Nephrocalcinosis, Retrognathia, Kyphoscoliosis, H...	OMIM:618005
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, Mitral regurgitation, Vent...	OMIM:277600
Alagille Syndrome 2	Cholestatic liver disease, Peripheral pulmonary artery stenosis, Renal hypoplasia, Tetralogy of F...	OMIM:610205
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Cerebellar hypoplasia, Atrial septal defect, Agenesi...	OMIM:601322
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,...	OMIM:609052
Naxos Disease	Palmoplantar keratoderma, Cleft upper lip, Cardiomyopathy, Congestive heart failure, Vertigo, Arr...	ORPHA:34217
Bardet-Biedl Syndrome 4	Abnormality of the dentition, Hypogonadism, Cryptorchidism, Polydactyly, Renal cyst, Brachydactyl...	OMIM:615982
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Ventriculomegaly, Vesicoureteral reflux, Narrow mouth, Hypoplasia of the corpus...	OMIM:613735
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, Dilated cardiom...	OMIM:616730
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Short distal phalanx of finger	ORPHA:2776
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Preaxial foot polydactyly, Multinodular goiter, Triphalangeal thumb...	ORPHA:2091
Mucopolysaccharidosis, Type Iiid	Low-set ears, Epiphyseal dysplasia, Hearing impairment, Recurrent otitis media, Mitral regurgitat...	OMIM:252940
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Microphthalmia, Cryptorchidism, Anophthalmia, Joint hypermobility, C...	OMIM:610125
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
17Q12 Microduplication Syndrome	Toe syndactyly, Finger syndactyly, Atrial septal defect, Microphthalmia, Cortical dysplasia, Clef...	ORPHA:261272
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Xerostomia, Hearing impairment, Ureterocele, Toe syndactyly, Cryptorchidism, Spars...	OMIM:604292
Arterial Tortuosity Syndrome	Aortic root aneurysm, Esophagitis, Arachnodactyly, Hip dislocation, Macrotia, Short nose, Gastroe...	ORPHA:3342
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta...	ORPHA:53035
White Forelock With Malformations	Finger syndactyly, Delayed skeletal maturation, Low-set, posteriorly rotated ears, Clinodactyly o...	ORPHA:2475
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Congenital hip dislocation, Lateral ventricle dilatation, Long philtrum, Supernumer...	ORPHA:457279
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra...	OMIM:156550
8Q21.11 Microdeletion Syndrome	Abnormality of the dentition, Hypoplasia of penis, Downturned corners of mouth, Finger syndactyly...	ORPHA:284160
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Hip subluxation, Hypoplasia of the pons, Hypoplasia ...	ORPHA:500144
Maternal Uniparental Disomy Of Chromosome 6	Ventriculomegaly, Slender long bone, Cleft upper lip, Congenital adrenal hyperplasia, Increased s...	ORPHA:96181
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Oral-pharyngeal dysphagia, Arrhythmia, Atrial septal defect, Brittle hair, Long nose, Hypospadias...	OMIM:619184
Chromosome 15Q14 Deletion Syndrome	Low-set ears, Highly arched eyebrow, Cleft lip, Tented upper lip vermilion, Recurrent viral upper...	OMIM:616898
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Mitral regurgi...	OMIM:271640
Hypophosphatasia, Infantile	Unossified vertebral bodies, Low alkaline phosphatase, Vertebral clefting, Increased susceptibili...	OMIM:241500
Kbg Syndrome	Ulnar deviation of the 2nd finger, Cryptorchidism, Low posterior hairline, Short neck, Widely-spa...	OMIM:148050
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Short distal phalanx of finger, Ventriculomega...	OMIM:618580
Galloway-Mowat Syndrome 1	Hand clenching, Joint contracture of the hand, Secondary microcephaly, Micrognathia, Hypoplasia o...	OMIM:251300
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ventriculomegaly, Retrognathia, Long philtrum, Cerebellar hypoplasia, Microcephaly, Everted lower...	OMIM:619556
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal cortical gyration, Upper limb hypertonia...	ORPHA:2524
Gorham-Stout Disease	Hearing impairment, Abnormality of the internal auditory canal, Torticollis, Abnormal bone ossifi...	ORPHA:73
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Choles...	OMIM:615486
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Widely spaced teeth, Cryptorchidism, Microdontia, Proteinuria, Micr...	ORPHA:2728
Aspergillosis	Pneumonia, Abnormality of the vertebral column, Hepatitis, Nasal congestion, Abnormal rib morphol...	ORPHA:1163
Postaxial Acrofacial Dysostosis	Low-set ears, Supernumerary vertebrae, Supernumerary nipple, Micrognathia, Cryptorchidism, Radiou...	OMIM:263750
Okamoto Syndrome	Aortic valve stenosis, Low-set ears, Abnormal helix morphology, Facial hypertrichosis, Exaggerate...	ORPHA:2729
3Mc Syndrome 2	Abnormal vertebral morphology, Hypoplasia of the musculature, Caudal appendage, Hearing impairmen...	OMIM:265050
Micro Syndrome	Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosu...	ORPHA:2510
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Fanconi Anemia, Complementation Group F	Cryptorchidism, 2-3 finger syndactyly, Atrial septal defect, Microphthalmia, Duodenal atresia, Pa...	OMIM:603467
Hypermobile Ehlers-Danlos Syndrome	Aortic root aneurysm, Limitation of joint mobility, Elbow dislocation, Mitral valve prolapse, Ara...	ORPHA:285
Gabriele-De Vries Syndrome	Micrognathia, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Fin...	ORPHA:506358
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Abnormality of the distal phalanx of the thumb, Agenesis of corpus ...	ORPHA:453521
Elsahy-Waters Syndrome	Low-set ears, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, I...	OMIM:211380
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Carious teeth, Oral leukoplakia, Microdontia, Microcephaly, Palmoplantar hyperk...	OMIM:224230
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti...	ORPHA:254534
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Mi...	OMIM:259600
Proteus Syndrome	Low-set ears, Pulmonary cyst, Carious teeth, Arteriovenous malformation, Finger syndactyly, Decre...	ORPHA:744
Isolated Exencephaly	Hypoplasia of the frontal bone, Abnormal facial skeleton morphology, Agenesis of corpus callosum,...	ORPHA:563612
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Hearing impairment, Sclerosis of hand bone, Micrognathia, ...	OMIM:224300
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste...	OMIM:614300
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Wide nasal bridge, Cerebellar atrophy, Decreased nerve conduction velocity, 11 pairs of ribs, Pro...	OMIM:618356
Megabladder, Congenital	Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis...	OMIM:618719
Hall-Riggs Syndrome	Platyspondyly, Depressed nasal bridge, Delayed skeletal maturation, Thick lower lip vermilion, Pr...	OMIM:234250
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Aortic root aneurysm, Carpal synostosis, Dysplasia of the femoral head, Bow...	OMIM:615349
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Trigeminal neuralgia, Patchy alopecia, Horner syn...	OMIM:141300
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Low-set ears, Hearing impairment, Delayed cranial suture closure, Narrow mouth, Cryptorchidism, M...	OMIM:601776
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S...	OMIM:272460
Marfan Syndrome	Increased axial length of the globe, Aortic root aneurysm, Open bite, Micrognathia, Mitral regurg...	ORPHA:558
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Recurrent pneumonia, Dental crowding, Gastroesophag...	OMIM:619769
X-Linked Intellectual Disability, Sutherland-Haan Type	Decreased testicular size, Hypoplasia of the maxilla, Mandibular prognathia, Microcephaly	ORPHA:93950
Spondyloenchondrodysplasia	Chronic kidney disease, Pancytopenia, Lower limb pain, Hematuria, Metaphyseal dysplasia, Autoimmu...	ORPHA:1855
Smith-Kingsmore Syndrome	Short distal phalanx of finger, Rhizomelia, Ventriculomegaly, Reduced cerebral white matter volum...	OMIM:616638
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty, Bilateral triphalangeal thumbs, Short distal phalanx of finger, Abnormality o...	OMIM:619356
Smith-Magenis Syndrome	Abnormal forearm morphology, Abnormality of the dentition, Ventriculomegaly, Everted upper lip ve...	OMIM:182290
Microcephalic Primordial Dwarfism, Toriello Type	Ventriculomegaly, Abnormal epiphysis morphology, Downturned corners of mouth, Microcephaly, Ename...	ORPHA:2643
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Craniosynostosis, Herrmann-Opitz Type	Webbed neck, Abnormality of the urethra, Finger syndactyly, Micromelia, Abnormal rib morphology, ...	ORPHA:2145
Lamb-Shaffer Syndrome	Optic atrophy, Broad nasal tip, Micrognathia, Fused cervical vertebrae, Thick vermilion border, H...	ORPHA:530983
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Cerebral hypoplasia, Hypoplasia of the brainstem, Small basal gan...	ORPHA:86822
Ring Chromosome 13 Syndrome	Hypospadias, Abnormality of the incisor, Aplasia/hypoplasia involving bones of the hand, Microgna...	ORPHA:96176
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Hypoplasia of the olfactory bulb, Failure of eruption of permanen...	ORPHA:2250
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Cerebral atrophy, M...	OMIM:258860
Ring Chromosome 10 Syndrome	Sandal gap, Long philtrum, Micrognathia, Microphthalmia, Thin vermilion border, Tapered finger	ORPHA:1438
5Q14.3 Microdeletion Syndrome	Ventriculomegaly, Toe syndactyly, Agenesis of cerebellar vermis, Open mouth, Hypoplasia of the co...	ORPHA:228384
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Cryptorchidism, ...	ORPHA:534
Teebi-Shaltout Syndrome	Aortic valve stenosis, Caudal appendage, Narrow mouth, Ventricular septal defect, Talipes equinov...	OMIM:272950
Mandibulofacial Dysostosis, Guion-Almeida Type	Slender finger, Preaxial hand polydactyly, Micrognathia, Malar flattening, Ventricular septal def...	OMIM:610536
Joubert Syndrome	Low-set ears, Highly arched eyebrow, Iris coloboma, Cerebellar vermis hypoplasia, Abnormal form o...	ORPHA:475
Cutis Laxa, Autosomal Recessive, Type Iid	Low-set ears, Narrow naris, Talipes equinovarus, Atrial septal defect, Hip dislocation, Macrotia,...	OMIM:617403
Mpi-Cdg	Hepatic fibrosis, Decreased liver function, Portal hypertension, Hypothyroidism, Hyperinsulinemic...	ORPHA:79319
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Garg-Mishra Progeroid Syndrome	Dental crowding, Slender long bone, Slender metacarpals, Secondary microcephaly, Micrognathia, Mi...	OMIM:620601
Buratti-Harel Syndrome	Low-set ears, Bifid uvula, Recurrent pneumonia, Gastroesophageal reflux, Dilation of Virchow-Robi...	OMIM:619314
Hemifacial Microsomia With Radial Defects	Orofacial cleft, Triphalangeal thumb, Short mandibular rami, Non-midline cleft of the upper lip, ...	OMIM:141400
Fucosidosis	Low-set ears, Hearing impairment, Cherry red spot of the macula, Barrel-shaped chest, Beaking of ...	OMIM:230000
Gómez-López-Hernández Syndrome	Low-set ears, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Anteverted nares, Abno...	ORPHA:1532
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Chronic kidney disease, Elevated circ...	ORPHA:84081
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Joint contracture of the hand, Hypoplastic anterior commissure, Dysgenesis of the basal ganglia, ...	OMIM:600638
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Facioscapulohumeral Muscular Dystrophy 1	Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Exuda...	OMIM:158900
Spondylometaphyseal Dysplasia, X-Linked	Wide nasal bridge, Depressed nasal bridge, Platyspondyly, Pectus carinatum, Short finger, Antever...	OMIM:313420
Postaxial Acrofacial Dysostosis	Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Micrognathia, Malar flattening,...	ORPHA:246
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Low-set ears, Abnormal clavicle morphology, Abnormal dental mor...	ORPHA:2522
Noonan Syndrome 3	Low-set ears, Hypoplastic nasal bridge, Cryptorchidism, Mitral valve prolapse, Ventricular septal...	OMIM:609942
Chromosome 5P13 Duplication Syndrome	Downturned corners of mouth, Vesicoureteral reflux, Single transverse palmar crease, Agenesis of ...	OMIM:613174
Achondrogenesis Type 1A	Narrow chest, Abnormal enchondral ossification, Long philtrum, Umbilical hernia, Micromelia, Shor...	ORPHA:93299
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Aortic valve stenosis, Ventriculomegaly, Broad thumb, Umbilical hernia, Micrognathia, ...	OMIM:614501
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Hematuria, Cirrhosis, Re...	ORPHA:774
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis, Ventriculomegaly, Tented upper lip vermilion, Open mouth, Periventricular white...	ORPHA:500533
Iniencephaly	Low-set ears, Narrow mouth, Encephalocele, Congenital diaphragmatic hernia, Talipes equinovarus, ...	ORPHA:63259
Lethal Kniest-Like Dysplasia	Low-set ears, Broad long bones, Talipes equinovarus, Short neck, Breech presentation, Atrial sept...	ORPHA:2347
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Abnormality of the dentition, Alopecia, Recurrent pneumonia, Recurrent respiratory infections, Re...	OMIM:618282
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Pectus carinatum, Skeletal muscle atrophy, Limitation of joint mobilit...	ORPHA:3068
Congenital Disorder Of Glycosylation, Type Iia	Low-set ears, Open mouth, Protruding tongue, Ventricular septal defect, Sensorineural hearing imp...	OMIM:212066
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Depressed nasal bridge, Epiphyseal dysplasia, Premature osteoarthritis, Anteverted...	OMIM:184840
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Genu valgum, Cubitus valgus, ...	OMIM:608154
Feingold Syndrome	Depressed nasal bridge, Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Abnormal f...	ORPHA:1305
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Optic atrophy, Hearing impairment, Lymphedema, Hypertrophic cardiomyopathy, Vertigo, Abnormal bra...	ORPHA:79279
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Hypoplasia of the pons, Atrial septal defect, Ventricular septal defect	OMIM:614249
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Abnormal thoracic spine morphology, Abnormality of the neck, Abnormal spleen ...	ORPHA:464329
Ring Chromosome 22 Syndrome	Pleural effusion, Protruding tongue, Absent septum pellucidum, Agenesis of corpus callosum, 2-3 t...	ORPHA:1446
Faciodigitogenital Syndrome, Autosomal Recessive	Hearing impairment, Long neck, Cryptorchidism, High palate, Short foot, Short nose, Syndactyly, A...	OMIM:227330
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Abnormal heart morphology, Cryptorchidis...	ORPHA:531151
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Recur...	ORPHA:333
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Small hand, Atresia of the external auditory canal,...	ORPHA:199
Atelosteogenesis Type I	Low-set ears, Micrognathia, Talipes equinovarus, Abnormal fibula morphology, Retinal dysplasia, J...	ORPHA:1190
Van Maldergem Syndrome 1	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Hypoplasia of the c...	OMIM:601390
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves...	OMIM:113650
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Hepatic steatosis, Cerebellar hypoplasia, Pancreatitis, Elevated circulat...	OMIM:618805
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Bifid uvula, Ventriculomegaly, Secundum atrial septal defect, Downturned corners of mouth, Long p...	OMIM:619121
Tyshchenko Syndrome	High, narrow palate, Narrow palate, Low-set ears, Narrow chest, Supernumerary nipple, Cryptorchid...	OMIM:615102
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Low-set ears, Abnormal form of ...	ORPHA:2180
Specc1L-Related Hypertelorism Syndrome	Low-set ears, Abnormal helix morphology, Finger syndactyly, Female pseudohermaphroditism, Cryptor...	ORPHA:1519
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Persistent open anterior fontanelle, Narrow mouth, Mitral regurgi...	OMIM:615539
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Pontocerebellar Hypoplasia Type 10	Wide nasal bridge, Optic atrophy, Highly arched eyebrow, Underdeveloped nasal alae, Abnormal brai...	ORPHA:411493
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Finger syndactyly, Long philtrum, Campto...	ORPHA:178303
Occipital Horn Syndrome	Synostosis of joints, Delayed cranial suture closure, Cholestasis, Osteomalacia, Humerus varus, G...	ORPHA:198
Frontofacionasal Dysplasia	Encephalocele, Hypoplasia of the corpus callosum, Hypoplasia of olfactory tract, Microphthalmia, ...	ORPHA:1791
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Retinal coloboma, Coarctation of aorta, Facial palsy, Macular coloboma	OMIM:107550
17P13.3 Microduplication Syndrome	Congenital hip dislocation, Ventriculomegaly, Narrow mouth, Hypoplasia of the corpus callosum, Cl...	ORPHA:217385
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Genu valgum, Beaking of vertebral bodies, Thoracolumbar kyphoscol...	OMIM:618853
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Thin ribs, Natal tooth, Chiari malformation, Clinodactyly, Long neck, Prominent sca...	OMIM:264090
Joubert Syndrome 32	Depressed nasal bridge, Postaxial foot polydactyly, Hypertrophic cardiomyopathy, Abnormal cerebel...	OMIM:617757
Chromosome 8Q21.11 Deletion Syndrome	Downturned corners of mouth, Micrognathia, Microphthalmia, Cryptorchidism, Exaggerated cupid's bo...	OMIM:614230
Autosomal Dominant Robinow Syndrome	Low-set ears, Hearing impairment, Elbow dislocation, Finger syndactyly, Open bite, Micrognathia, ...	ORPHA:3107
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Ventriculomegaly, Steroid-resistant nephrotic syndrome, Stage...	OMIM:617731
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Recurrent otitis media, Cone/cone-rod dystrophy, Microphthalmia, Hypoplastic inferior ilia, Short...	OMIM:608940
Combined Oxidative Phosphorylation Deficiency 54	Microretrognathia, Secondary microcephaly, Periventricular white matter hyperintensities, Dysplas...	OMIM:619737
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Tented upper lip vermilion, Alveolar ridge overgrowth, Short philtrum, Microcephaly, Partial agen...	OMIM:618346
Johanson-Blizzard Syndrome	Cryptorchidism, Death in childhood, Ventricular septal defect, Elevated circulating alanine amino...	OMIM:243800
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Cerebellar atrophy, Fine hair, Generalized limb muscle atrophy, Talipes val...	OMIM:618891
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Low-set ears, Giant cell hepatitis, Nephropathy, Elevated gamma-glutamyltransferase level, Hearin...	OMIM:208085
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Low-set ears, Abnormal form of the vertebral bodies, Abnormal...	ORPHA:2759
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Cleft Lip-Retinopathy Syndrome	Non-midline cleft of the upper lip	ORPHA:1995
Trichorhinophalangeal Syndrome Type 2	Abnormality of the dentition, Ventriculomegaly, Long philtrum, Avascular necrosis of the capital ...	ORPHA:502
Kapur-Toriello Syndrome	Low-set ears, Iris coloboma, Atresia of the external auditory canal, Retinal coloboma, Tetralogy ...	ORPHA:2328
Constricting Bands, Congenital	Cleft upper lip, Abnormal lung lobation, Encephalocele, Talipes equinovarus, Hand polydactyly, Ec...	OMIM:217100
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Neu-Laxova Syndrome	Cerebral calcification, Micrognathia, Everted lower lip vermilion, Large hands, Abnormal cerebell...	ORPHA:2671
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Cryptorchidism, Hypogonadotropic hypogonadism, Microp...	OMIM:244200
Spastic Paraplegia 16, X-Linked	Short distal phalanx of finger, Hypoplasia of the maxilla, Urinary bladder sphincter dysfunction,...	OMIM:300266
Joubert Syndrome 7	Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Genu valgum, Stage 5 chronic ...	OMIM:611560
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin...	OMIM:187300
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Bilateral conductive hearing impairment, Hearing impairment, Abnormal morphology of t...	ORPHA:488642
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Mandibular prognathia, Broad thumb, Cleft upper lip, Acetabular d...	OMIM:201180
Autosomal Dominant Spondylocostal Dysostosis	Wide nasal bridge, Abnormal rib morphology, Abnormal morphology of female internal genitalia, Pos...	ORPHA:1797
Codas Syndrome	Crumpled ear, Hypoplasia of the odontoid process, Genu valgum, Cryptorchidism, Ventricular septal...	OMIM:600373
Mend Syndrome	Aortic valve stenosis, Microretrognathia, Broad hallux, Overlapping fingers, Overlapping toe, Mic...	OMIM:300960
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Hearing impairment, Cleft mandible, Delayed peripheral myelination, Everted lower lip vermilion, ...	ORPHA:364577
Hallermann-Streiff Syndrome	Small hand, Rib exostoses, Natal tooth, Sparse body hair, Micrognathia, Narrow mouth, Cryptorchid...	ORPHA:2108
Yunis-Varon Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Micrognat...	OMIM:216340
3Mc Syndrome 3	Clinodactyly, Cleft upper lip, Preaxial polydactyly, Horseshoe kidney, Cryptorchidism, Radioulnar...	OMIM:248340
Mosaic Trisomy 8	Camptodactyly of finger, Decreased testicular size, Micrognathia, Vesicoureteral reflux, Patellar...	ORPHA:96061
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainst...	ORPHA:101070
Gaucher Disease, Type Ii	Recurrent aspiration pneumonia, Bronchiolitis, Gastroesophageal reflux, Splenomegaly, Anemia, Tri...	OMIM:230900
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the dentition, Cerebral cortical atrophy, Thick lower lip vermilion, Clinodactyly ...	ORPHA:847
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Cerebellar vermis hypoplasia, Ventriculomegaly, Reduced cerebral white matter volume, Hypoplasia ...	OMIM:617807
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Thoracic platyspondyl...	OMIM:618961
Familial Multiple Nevi Flammei	Pulmonary embolism, Arteriovenous malformation, Abnormal cranial nerve morphology, Venous insuffi...	ORPHA:624
Chondroectodermal Dysplasia With Night Blindness	Platyspondyly, Osteopenia, Epiphyseal dysplasia, Fractures of the long bones, Delayed skeletal ma...	ORPHA:319195
Schisis Association	Micromelia, Unilateral cleft lip, Encephalocele, Microcephaly, Spina bifida, Anencephaly, Cleft p...	ORPHA:63862
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad nasal tip, Short distal phalanx of the thumb, Upper limb mu...	ORPHA:370010
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Elevated gamma-glutamyltransferase level, Microcytic anemia, Ankyloglossia, Recurre...	OMIM:619525
Distal Duplication 17Q	Overlapping toe, Micrognathia, Genu valgum, Cryptorchidism, Abducens palsy, Low posterior hairlin...	ORPHA:3379
Multiple Benign Circumferential Skin Creases On Limbs	Hypospadias, Long philtrum, Umbilical hernia, Micrognathia, Cryptorchidism, Microcephaly, Microph...	ORPHA:2505
Saul-Wilson Syndrome	Hypoplasia of the odontoid process, Hearing impairment, Micrognathia, Sensorineural hearing impai...	OMIM:618150
Leigh Syndrome	Neuronal loss in basal ganglia, 3-Methylglutaconic aciduria, Agenesis of corpus callosum, Ventric...	ORPHA:506
Neurodevelopmental Disorder With Spasticity And Poor Growth	Low-set ears, Narrow mouth, Bilateral coxa valga, Patent ductus arteriosus, High, narrow palate, ...	OMIM:618076
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Small hand, Hypoplasia of the odontoid process, Narrow nasal bridge, Malar flatten...	ORPHA:85172
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Chiari malformation, Osteopathia stri...	ORPHA:93357
Monosomy 9P	Abnormality of the dentition, Hypospadias, Long philtrum, Abnormality of the tarsal bones, Microg...	ORPHA:261112
Spondylocostal Dysostosis 1, Autosomal Recessive	Cystic hygroma, Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation def...	OMIM:277300
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Palmoplantar keratoderma, Multiple muscular ventricular septal defects, Microcephaly, Reduced cir...	OMIM:615508
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Retrognathia, Elbow dislocation, Knee dislocation, Cerebellar atr...	OMIM:620269
Kinsship Syndrome	Ankyloglossia, Micrognathia, Dandy-Walker malformation, Dislocated radial head, Hip dislocation, ...	OMIM:619297
Culler-Jones Syndrome	Ectopic posterior pituitary, Cleft upper lip, Hypogonadism, Hypopituitarism, Cryptorchidism, Post...	OMIM:615849
Kohlschutter-Tonz Syndrome	Ventriculomegaly, Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Amelogenesis imperfecta,...	OMIM:226750
Atypical Pantothenate Kinase-Associated Neurodegeneration	Dysphagia, Optic atrophy, Tongue atrophy, Retinopathy	ORPHA:216873
Sanjad-Sakati Syndrome	Abnormality of the dentition, Small hand, Ventriculomegaly, Long philtrum, Abnormal dental enamel...	ORPHA:2323
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Micrognathia, Hepatic steatosis, Ventr...	OMIM:619991
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ...	OMIM:616583
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Hearing impairment, Genu valgum, Asteroid hyalosis, Intervertebral ...	ORPHA:166011
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microcephaly, Deep philtrum, ...	OMIM:152950
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology, Corneal stromal edema, Diabetes mellitus	ORPHA:137596
Den Hoed-De Boer-Voisin Syndrome	Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Sa...	OMIM:619229
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho...	ORPHA:1798
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Low-set ears, Depressed nasal bridge, Hypoplastic ilia, Narrow chest, Micromelia, Long philtrum, ...	OMIM:617895
Congenital Myopathy 22B, Severe Fetal	Low-set ears, Thin ribs, Hypoplasia of the musculature, Micrognathia, Limb muscle weakness, Hip c...	OMIM:620369
Pseudodiastrophic Dysplasia	Platyspondyly, Webbed neck, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, An...	OMIM:264180
Menkes Disease	Micrognathia, Bowing of the long bones, Tarsal synostosis, Sparse hair, Gastrointestinal hemorrha...	ORPHA:565
Japanese Encephalitis	Genu recurvatum, Abnormal midbrain morphology, Distal upper limb muscle weakness, Decreased motor...	ORPHA:79139
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Pectus carinatum, Broad thumb, Secundum atrial septal defect, Clinodactyly, Hyperplas...	OMIM:620194
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Alopecia, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, T...	OMIM:269200
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the pons, Agenesis of corpus callosum,...	OMIM:617669
Magel2-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Small scrotum, Small hand, Xerostomia, Absence of pubertal develo...	ORPHA:398069
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Increased circulating prolactin concentration, Increased serum estradiol, Narrow mou...	ORPHA:3455
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Congenital ...	ORPHA:958
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Peripheral demyelination, Neutropenia, Jaundice, Stomatitis, Macular coloboma, Abno...	ORPHA:79282
Congenital Varicella Syndrome	Cerebral cortical atrophy, Microcephaly, Micromelia, Microphthalmia	ORPHA:291
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Tongue fasciculations, Abnormal anterior horn cell morphology, Skeleta...	ORPHA:1145
Holoprosencephaly 1	Alobar holoprosencephaly, Median cleft palate, Agenesis of corpus callosum, Median cleft upper li...	OMIM:236100
Carey-Fineman-Ziter Syndrome	Micrognathia, Myopathy, Talipes equinovarus, High palate, Short nose, Pierre-Robin sequence, Ulna...	ORPHA:1358
Pontocerebellar Hypoplasia, Type 8	Low-set ears, Gastroesophageal reflux, Arthrogryposis multiplex congenita, Hypertrichosis, Talipe...	OMIM:614961
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Clinodactyly, Elbow dislocation, Long philtrum, Slender long bone, Hyp...	OMIM:613805
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Wide nasal bridge, Nephrocalcinosis, Thick lower lip vermilion, Thick upper lip vermilion, Open m...	OMIM:611087
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Elbow dislo...	ORPHA:3258
Van Den Ende-Gupta Syndrome	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Dilatation of the renal pelvis, L...	OMIM:600920
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Increased circulating prolactin concentration, Sensorineural hearing impair...	ORPHA:293987
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Ventriculomegaly, Long philtrum, Gingival overgrowth, Protruding tongue, Pat...	OMIM:619179
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Abnormal midbrain morphology, Abnorma...	ORPHA:206448
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Ventriculomegaly, Occipital encephalocele, Hypoplasia of the brains...	OMIM:615287
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Hypoplasia of the pons, Cerebral atrophy, Hypoplasia of the brainstem, Thick up...	OMIM:614969
Glutathionuria	Urinary incontinence, Glutathionuria, Agenesis of corpus callosum	OMIM:231950
Anauxetic Dysplasia 1	Aortic valve stenosis, Atlantoaxial dislocation, Hip contracture, Barrel-shaped chest, Short neck...	OMIM:607095
Joubert Syndrome 28	Wide nasal bridge, Highly arched eyebrow, Pigmentary retinopathy, Joint hypermobility, Molar toot...	OMIM:617121
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Hypoplasia of the musculature, Narrow mouth, Low posterior hairline, Arachnodactyly, A...	ORPHA:2463
Joubert Syndrome 16	Nephronophthisis, Encephalocele, Polydactyly, Renal cyst, Dandy-Walker malformation	OMIM:614465
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Tetralogy of Fallot, Agenesis of corpus callosum	OMIM:250620
Cog1-Cdg	Hepatosplenomegaly, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck, Flat acetabular ...	ORPHA:263508
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal cerebral cortex morphology, Retrognathia...	ORPHA:163961
Distal Deletion 19P	Hypoplasia of the maxilla, Umbilical hernia, Ventricular septal defect, Arachnodactyly, Tricuspid...	ORPHA:96129
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Dilatation of the cerebral artery, Intestinal malrotation, Aortic ar...	OMIM:613834
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Low-set ears, Microglossia, Dental malocclusion, Dental crowding, Hea...	OMIM:614669
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Dry hair, Limitation of joint mobility, White hair, H...	ORPHA:576
Pontocerebellar Hypoplasia, Type 17	Cerebellar vermis hypoplasia, Microretrognathia, Secundum atrial septal defect, Gastroesophageal ...	OMIM:619909
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Protruding tongue, Mitral valve prolapse, Mitral regurgitation, Everted lo...	ORPHA:324410
Occipital Horn Syndrome	Long neck, Genu valgum, High palate, Pectus carinatum, Broad clavicles, Ureteral obstruction, Lim...	OMIM:304150
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Oligohydramnios, Renal insufficiency, ...	ORPHA:1909
Nephronophthisis 15	Cerebellar vermis hypoplasia, Elevated circulating hepatic transaminase concentration, Nephronoph...	OMIM:614845
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Micromelia, Micrognathia, Narrow mouth, Cryptorchidism, Malar flattening...	OMIM:224410
Nanophthalmos	Microphthalmia	ORPHA:35612
Jeune Syndrome	Nephropathy, Abnormal pelvic girdle bone morphology, Nephronophthisis, Toe syndactyly, Postaxial ...	ORPHA:474
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Joint contracture of the hand, Ulnar deviation of the 2nd finger, Sensorineural hearing impairmen...	ORPHA:456312
Osteogenesis Imperfecta, Type Xiii	Hearing impairment, Generalized hirsutism, Arachnodactyly, Dislocated radial head, Pectus carinat...	OMIM:614856
Robinow Syndrome, Autosomal Dominant 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, S...	OMIM:180700
Mucopolysaccharidosis, Type Iiia	Recurrent upper respiratory tract infections, Coarse hair, Reduced leukocyte N-sulfoglucosamine s...	OMIM:252900
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Atrial septal de...	ORPHA:52056
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the ulna, Abnormal car...	ORPHA:1352
Lipoyltransferase 1 Deficiency	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, De...	OMIM:616299
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly	OMIM:610023
Tbck-Related Intellectual Disability Syndrome	Clinodactyly, Central adrenal insufficiency, Cryptorchidism, Hypoplasia of the corpus callosum, V...	ORPHA:488632
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Coarse hair, Hearing impairment, Dense calvaria, Hy...	OMIM:252930
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Low-set ears, Gastroesophageal reflux, Hearing impairment, Clinodactyly, Recur...	OMIM:613604
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Microcephaly 27, Primary, Autosomal Dominant	Ventriculomegaly, Short finger, Simplified gyral pattern, Cryptorchidism, Primary microcephaly, M...	OMIM:619180
Developmental And Epileptic Encephalopathy 64	Cerebral cortical atrophy, Ventriculomegaly, Long philtrum, Widely spaced teeth, Thick lower lip ...	OMIM:618004
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Isolated Cleft Lip	Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxillary incisor, Macrodontia, Sit...	ORPHA:199302
Aneurysm-Osteoarthritis Syndrome	Abdominal aortic aneurysm, Intervertebral disk degeneration, Mitral regurgitation, Knee osteoarth...	ORPHA:284984
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Anal stenosis, Broad nasal tip, Wide mouth, Tented upper lip vermilion, Decrea...	OMIM:614207
Fanconi Anemia, Complementation Group R	Absent thumb, Radial dysplasia, Agenesis of permanent teeth, Chiari type I malformation, Microcep...	OMIM:617244
Ferguson-Bonni Neurodevelopmental Syndrome	Hearing impairment, Stenosis of the external auditory canal, Micrognathia, Congenital diaphragmat...	OMIM:619699
Osteoglophonic Dysplasia	Low-set ears, Hypoplastic scapulae, Broad thumb, Cryptorchidism, Bowing of the long bones, Chorde...	OMIM:166250
Mucolipidosis Iv	Cerebellar atrophy, Hypergastrinemia, Microcephaly, Dysplastic corpus callosum, Cerebral dysmyeli...	OMIM:252650
Ogden Syndrome	High, narrow palate, Ventriculomegaly, Microretrognathia, Broad hallux, Everted upper lip vermili...	ORPHA:276432
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Sensorineural hearing impairment, Absent e...	ORPHA:544488
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia, Polydactyly	OMIM:616490
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Pachygyria, Simplified gyr...	OMIM:251270
Giant Axonal Neuropathy	Abnormal hand morphology, Genu valgum, Pili canaliculi, Limb muscle weakness, Abnormality of the ...	ORPHA:643
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Increased circulating prolactin concentration, Aspiration pneumonia, Cryptorchidism, Ventricular ...	ORPHA:438213
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Micrognathia, Hypomimic face, High palate, Dysphagia, Short nose, Pectus carinatum,...	OMIM:617527
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Hearing impairment, Thick low...	ORPHA:583
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Ventriculomegaly, Neuronal loss in basal ganglia, Cerebellar atrophy, Focal cortical dysplasia, C...	OMIM:604377
Proximal Spinal Muscular Atrophy	Tongue fasciculations, Recurrent infections due to aspiration, Atrial septal defect, Dysphagia, H...	ORPHA:70
Citrullinemia Type Ii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Delayed menarche, Hepa...	ORPHA:247585
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Pectus carinatum, Sclerotic foci of metaphyses of the elbow, Kyphosis,...	OMIM:271530
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Ventriculomegaly, Finger syndactyly, ...	ORPHA:1647
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal corpus callosum morphology, Abnormality of the dentition, Ventriculomegaly, Toe syndacty...	ORPHA:3224
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, E...	OMIM:616819
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Orofaciodigital Syndrome Xi	Wide nasal bridge, Hypoplasia of the odontoid process, Gastroesophageal reflux, Bulbous nose, Kyp...	OMIM:612913
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnormality of the knee, Pr...	ORPHA:99642
Joubert Syndrome 40	Postaxial polydactyly, Depressed nasal bridge, Molar tooth sign on MRI, Optic nerve hypoplasia	OMIM:619582
Aymé-Gripp Syndrome	Low-set ears, Limitation of joint mobility, Reduced arm span, Delayed cranial suture closure, Nar...	ORPHA:1272
Bcard Syndrome	Low-set ears, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fi...	OMIM:612394
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Osteomalacia, Micrognathia, Cryptorchidism, Bilateral single transverse palmar crea...	ORPHA:2636
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Ventriculomegaly, Thick upper lip vermilion, Basal ganglia calcific...	OMIM:617281
Basilicata-Akhtar Syndrome	Precocious puberty, Ventriculomegaly, Downturned corners of mouth, Retrognathia, Tented upper lip...	OMIM:301032
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Micromelia, Polysplenia, Pancreatic fibrosis, Postaxial hand polydactyly, Hepat...	OMIM:200995
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Meckel Syndrome 13	Occipital encephalocele, Micrognathia, Retinopathy, Cerebellar hypoplasia, Molar tooth sign on MR...	OMIM:617562
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Low-set ears, Supernumerary nipple, Delayed cranial suture closure, Overlapping toe, Cryptorchidi...	OMIM:618653
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Gen...	OMIM:609223
Klippel-Feil Syndrome 1, Autosomal Dominant	Unilateral renal agenesis, Webbed neck, Conductive hearing impairment, Hearing impairment, Sensor...	OMIM:118100
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con...	ORPHA:199306
Joubert Syndrome 35	Low-set ears, Depressed nasal bridge, Highly arched eyebrow, Multicystic kidney dysplasia, Cerebe...	OMIM:618161
Familial Congenital Mirror Movements	Hypogonadotropic hypogonadism, Abnormal corticospinal tract morphology, Agenesis of corpus callosum	ORPHA:238722
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Carious teeth, Periodontitis, Uterine rupture, Narrow mouth, ...	ORPHA:286
Nablus Mask-Like Facial Syndrome	Abnormality of the dentition, Joint contracture of the hand, Hypoplasia of the maxilla, Clinodact...	OMIM:608156
Multiple Mitochondrial Dysfunctions Syndrome 3	Ventriculomegaly, Retrognathia, Cerebral atrophy, Polymicrogyria, Hypoplasia of the corpus callos...	OMIM:615330
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Secondary microcephaly, Ele...	OMIM:617093
Intellectual Developmental Disorder, Autosomal Dominant 64	Ventriculomegaly, Prominent fingertip pads, Micrognathia, Single transverse palmar crease, Thin u...	OMIM:619188
Prune Belly Syndrome	Congenital hip dislocation, Pectus carinatum, Xerostomia, Hydroureter, Oligohydramnios, Cryptorch...	OMIM:100100
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:614432
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Premature osteoarthritis, Micrognathia, Sensorineural hearing impairment, B...	OMIM:215150
Asparagine Synthetase Deficiency	Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Global brain atrophy, Hy...	OMIM:615574
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Dilated cardiomyopathy, Aplasia/Hypoplasia of the corpus callosum, Camptodactyl...	ORPHA:272
Cranioectodermal Dysplasia 3	Peripheral pulmonary artery stenosis, Short nail, Nephronophthisis, 2-4 toe syndactyly, Fine hair...	OMIM:614099
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Cerebral cortical atrophy, Broad thumb, Abnormal epiphysis morpho...	ORPHA:1784
Warburg Micro Syndrome 4	Cerebral cortical atrophy, Cerebellar atrophy, Long philtrum, Secondary microcephaly, Decreased t...	OMIM:615663
Warsaw Breakage Syndrome	Cupped ear, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Single transverse palma...	OMIM:613398
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Open bite, Genu valgum, Beaking of vertebral bodies, Aortic regurgitation,...	OMIM:619698
Hyperparathyroidism, Transient Neonatal	Low-set ears, Thin ribs, Fractured rib, Ovarian cyst, Elevated circulating alkaline phosphatase c...	OMIM:618188
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus carinatum, Hypoplasia of the maxilla, Mandibular prognathia, Narrow chest, Prominent nasal...	OMIM:300676
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Talipes equinovarus, Increased Z-disc width, Urin...	OMIM:617114
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h...	OMIM:611717
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ...	OMIM:300863
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Hypospadias, Situs inversus totalis, Hypogonadism	OMIM:615985
Genitopatellar Syndrome	Multicystic kidney dysplasia, Micrognathia, Patellar aplasia, Hip contracture, Ventricular septal...	OMIM:606170
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Ventriculomegaly, Micromelia, Flared metaphys...	OMIM:187601
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Clubbing, Polycythemia, ...	OMIM:600376
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Cardiomyopathy, Fusion of midcervical facet joints, Limitation of neck motion, L...	OMIM:606842
Melanocytic Nevus Syndrome, Congenital	Long philtrum, Open mouth, Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion	OMIM:137550
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Un...	OMIM:618419
Plaa-Associated Neurodevelopmental Disorder	Leukoencephalopathy, Ventriculomegaly, Postaxial foot polydactyly, Abnormal cortical gyration, Lo...	ORPHA:521426
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Pseudo-Torch Syndrome 2	Thin ribs, Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect...	OMIM:617397
Fanconi Anemia, Complementation Group G	Microcephaly, Abnormal thumb morphology, Microphthalmia	OMIM:614082
Cerebrocostomandibular Syndrome	Hydranencephaly, Multicystic kidney dysplasia, Myelomeningocele, Cerebral calcification, Microgna...	ORPHA:1393
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal mesentery morphology, Abnormality of the spleen, ...	ORPHA:93941
Neu-Laxova Syndrome 2	Lissencephaly, Ventriculomegaly, Toe syndactyly, Finger syndactyly, Micrognathia, Cerebellar hypo...	OMIM:616038
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Low-set ears, Abnormality of the dentition, Long philtrum, Prominent nasal bridge, Inguinal herni...	ORPHA:261190
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcephaly, Gingival overgrow...	OMIM:620352
Peho Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Abnormal upper lip morphology, G...	ORPHA:2836
Autosomal Recessive Stickler Syndrome	Platyspondyly, Epiphyseal dysplasia, Abnormal epiphysis morphology, Vitreoretinopathy, Micrognath...	ORPHA:250984
3Q29 Microduplication Syndrome	Abnormality of the dentition, Toe syndactyly, Sandal gap, Aniridia, Ventricular septal defect, Ca...	ORPHA:251038
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Nar...	OMIM:620072
Developmental And Epileptic Encephalopathy 1	Ventriculomegaly, Global brain atrophy, Microcephaly, Microphthalmia, Micropenis	OMIM:308350
Xq21 Microdeletion Syndrome	Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Upper limb muscl...	ORPHA:1435
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology, Sensorineural hearing impairment	ORPHA:3225
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cerebellar vermis hypoplasia, Unilateral renal agenesis, Hearing impairment, Coronary artery fist...	OMIM:620024
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Knee flexion contracture, Kyphoscoliosis, Talipes equino...	ORPHA:496689
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Low-set ears, Micrognathia, Cryptorchidism, Abnormal antihelix morphology, Ventricular septal def...	ORPHA:3047
Distal Deletion 3P	Ventriculomegaly, Downturned corners of mouth, Long philtrum, Umbilical hernia, Atrioventricular ...	ORPHA:1620
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Platyspondyly, Epiphyseal dysplasia, Arthralgia of the hip, Broad femoral neck, Flared femoral me...	OMIM:609324
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Slender long bone, Thick lower lip vermilion, Emphysema, Breast hypopl...	OMIM:613804
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Palmoplantar keratoderma, Delayed eruption of teeth, Finger syndactyly, Widely spa...	ORPHA:1071
Dyskeratosis Congenita	Carious teeth, Periodontitis, Hearing impairment, White hair, Premature graying of hair, Displace...	ORPHA:1775
Ohdo Syndrome, X-Linked	Clinodactyly, Long philtrum, Widely spaced teeth, Short thumb, Overlapping toe, Micrognathia, Nar...	OMIM:300895
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal defect	OMIM:235750
Phace Association	Optic atrophy, Arterial stenosis, Congenital hypothyroidism, Lingual thyroid, Ventricular septal ...	OMIM:606519
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Delayed skeletal maturation, Upper limb asymmetry, Diastasis recti, Polydactyly,...	ORPHA:231140
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal sternum morphology, Abnormal heart morphology, Partial diaphragmati...	ORPHA:2847
Trisomy 9P	Dental crowding, Downturned corners of mouth, Impacted tooth, Bilateral single transverse palmar ...	ORPHA:236
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Anteverted nares, Abnormality of p...	ORPHA:438216
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventriculomegaly, Absent cupid's bow, Abnormal heart morphology, Hypopla...	ORPHA:284169
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Male urethral meatus stenos...	OMIM:613406
Nance-Horan Syndrome	Abnormality of the dentition, Microphthalmia, Supernumerary tooth, Mandibular prognathia, Short m...	ORPHA:627
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Thick lower lip vermilion, Agenesis of corpus callosum, Microcephal...	ORPHA:466688
Pontocerebellar Hypoplasia, Type 9	Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the pons, Secondary microcephaly, Peri...	OMIM:615809
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Low-set ears, Depressed nasal bridge, Recurrent pneumonia, Sparse lateral eyebrow, Aspiration pne...	ORPHA:314655
Ehlers-Danlos Syndrome, Vascular Type	Periodontitis, Uterine rupture, Cryptorchidism, Mitral valve prolapse, Talipes equinovarus, Pulmo...	OMIM:130050
Megalencephaly	Wide nasal bridge, Long penis, Delayed skeletal maturation, Genu valgum, Short neck, Atrial septa...	ORPHA:2477
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Rhizomelia, Long philtrum, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, ...	OMIM:615877
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Ventriculomegaly, Absent thumb, Chiari malformation, Polysplenia, Decreased res...	OMIM:617784
Coffin-Siris Syndrome 11	Bifid uvula, Small hand, Downturned corners of mouth, Cleft soft palate, Agenesis of corpus callo...	OMIM:618779
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Narrow mouth, Bilateral single transverse pal...	ORPHA:261349
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,...	OMIM:619424
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Developmental And Epileptic Encephalopathy 99	Ventriculomegaly, Frontotemporal cerebral atrophy, Cerebellar atrophy, Microcephaly, Thin corpus ...	OMIM:619606
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Carious teeth, Shallow acetabular fossae, Hypo...	OMIM:182250
Xeroderma Pigmentosum, Complementation Group G	Microcephaly, Microphthalmia	OMIM:278780
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Clinodactyly, Sandal gap, Broad hallux, 3-4 toe syndactyly, P...	OMIM:618727
Wildervanck Syndrome	Webbed neck, Congenital sensorineural hearing impairment, Pseudopapilledema, Abducens palsy, Low ...	ORPHA:3456
Platyspondylic Dysplasia, Torrance Type	Low-set ears, Hypoplastic scapulae, Bowing of the long bones, Short foot, Genu varum, Short thora...	ORPHA:85166
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Craniofacial hyperostosis, Alopecia, Interrupted aortic arch, Abnormal aor...	ORPHA:2396
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Delayed skeletal maturation, Clinodactyly of the 5th finger, Abno...	ORPHA:2163
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorma...	ORPHA:1345
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Low-set ears, Carious teeth, Grade III vesicoureteral reflux, Cryptorchidism, Ventricular septal ...	OMIM:619522
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Atrioventricular canal defect, Narrow mouth, Exaggerated cupid's bow, Spina bifida, ...	OMIM:619480
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Wide nasal bridge, High anterior hairline, Long philtrum, Umbilical hernia, Delayed skeletal matu...	ORPHA:1292
Kyphomelic Dysplasia	Radial bowing, Cleft upper lip, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Femoral b...	OMIM:211350
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Detrusor sphincter dyssynergia, Neuromuscular...	ORPHA:466722
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Cerebellar vermis hypoplasia, Long philtrum, Secondary microcephaly, ...	ORPHA:357058
Unilateral Polymicrogyria	Epistaxis, Giant somatosensory evoked potentials, Pseudobulbar paralysis, Abnormal heart morpholo...	ORPHA:268943
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Lymphopenia, Hepatosplenomegaly, Abnormal intestine morph...	ORPHA:391487
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Hypospadias, Highly arched eyebrow, Toe syndactyly, Short thumb, A...	ORPHA:2319
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy...	OMIM:615895
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Platyspondyly, Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Art...	ORPHA:1856
Myoclonic-Astatic Epilepsy	Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microcephaly, Microphthalmia,...	ORPHA:1942
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Type I diabetes mellitus, Delayed eruption of teeth, Duplication of...	ORPHA:2036
Hamel Cerebro-Palato-Cardiac Syndrome	Wide nasal bridge, Cupped ear, Bulbous nose, Micrognathia, Narrow mouth, Malar flattening, Arachn...	ORPHA:93946
Cockayne Syndrome B	Carious teeth, Square pelvis bone, Hypoplastic iliac wing, Basal ganglia calcification, Cryptorch...	OMIM:133540
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Vesicoureteral reflux, Nephrolithiasis, Talipes equinovarus, Tapered finger, Vascula...	OMIM:617219
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Microdontia, Hypodontia, Everted lower...	ORPHA:782
Holoprosencephaly 3	Depressed nasal bridge, Bifid uvula, Cleft lip, Abnormality of the nose, Proboscis, Short columel...	OMIM:142945
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Hearing impairment, White hair, Atelectasis, Camptodactyly of finger,...	ORPHA:896
20P13 Microdeletion Syndrome	Low-set ears, Hypoplastic helices, Highly arched eyebrow, Finger syndactyly, Clinodactyly, Promin...	ORPHA:313781
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal joint morphology, Lumbar scoliosis, Short neck, Abnormal bone ossification, Metaphyseal ...	ORPHA:99646
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Short neck, Radial head subluxation, Advanced ossification of ...	OMIM:615777
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal rib morphology, Supernumerary nipple, Abnormal sternum morphology, Broad ribs, Congenita...	ORPHA:2519
Branchioskeletogenital Syndrome	Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Absent external genitalia, Broad nasal t...	ORPHA:1299
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Long philtrum, Thick lower lip vermilion, Tricuspid regurgitation, Microgna...	ORPHA:555877
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Combined Oxidative Phosphorylation Deficiency 12	Leukoencephalopathy, Cholestasis, Elevated circulating aspartate aminotransferase concentration, ...	OMIM:614924
Alazami Syndrome	Low-set ears, Sparse eyebrow, Slender long bone, Widely spaced teeth, Wide mouth, Malar flattenin...	ORPHA:319671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Cerebral calcification, Hypoplasi...	OMIM:616538
Adnp Syndrome	Broad thumb, Cryptorchidism, Hypoplasia of the corpus callosum, Focal white matter lesions, Urina...	ORPHA:404448
Acromesomelic Dysplasia 4	Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Generalized hirsutism, ...	OMIM:619636
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Clinodactyly of the 2nd finger, Micrognathia, Mitral regurgitation, Osteopenia, Tricuspid regurgi...	ORPHA:73223
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Humeroradial synostosis, Arachnodactyly, Hypoplastic labia majora, A...	OMIM:207410
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Cerebellar atrophy, Hypoplasia of the corpus callosum, Agenes...	OMIM:616239
Maternal Uniparental Disomy Of Chromosome 1	Type I diabetes mellitus, Ventriculomegaly, Downturned corners of mouth, Epiphyseal stippling, Si...	ORPHA:251009
Microphthalmia, Syndromic 13	Microcephaly, Widely-spaced incisors, Microphthalmia	OMIM:300915
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Wilson Disease	Osteomalacia, Acute hepatic failure, Limb muscle weakness, Hepatic steatosis, Cirrhosis, Elevated...	OMIM:277900
Skin Creases, Congenital Symmetric Circumferential, 2	Ventriculomegaly, Carious teeth, Ureterocele, Micrognathia, Narrow mouth, Cryptorchidism, Hypopla...	OMIM:616734
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Platyspondyly, Lower-limb metaphyseal irregularity, Irregular femoral epiphy...	OMIM:618728
Crouzon Syndrome	Lambdoidal craniosynostosis, Optic atrophy, Hypoplasia of the maxilla, Coronal craniosynostosis, ...	OMIM:123500
Cardiofaciocutaneous Syndrome 3	Webbed neck, Hypertrophic cardiomyopathy, Wide mouth, Reduced bone mineral density, Ventricular s...	OMIM:615279
Wildervanck Syndrome	Abnormality of the outer ear, Webbed neck, Hearing impairment, Pseudopapilledema, Abducens palsy,...	OMIM:314600
Juvenile Polyposis Of Infancy	Low-set ears, Intestinal bleeding, Broad thumb, Broad phalanx of the toes, Narrow mouth, Atrial s...	ORPHA:79076
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Renal tu...	ORPHA:79240
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microphthalmia	OMIM:167730
Arthrogryposis And Ectodermal Dysplasia	Joint contracture of the hand, Cleft upper lip, Abnormal dental enamel morphology, Oligodontia, M...	OMIM:601701
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Portal hypertension	OMIM:617341
Campomelia, Cumming Type	Multicystic kidney dysplasia, Clubbing of toes, Micromelia, Lymphedema, Oligohydramnios, Abnormal...	ORPHA:1318
Lipodystrophy, Familial Partial, Type 7	Low-set ears, Sparse scalp hair, Spontaneous pneumothorax, Pigmentary retinopathy, Type I diabete...	OMIM:606721
3Q29 Microdeletion Syndrome	Abnormality of the dentition, Dental crowding, Horseshoe kidney, Microcephaly, Orofacial cleft, S...	ORPHA:65286
8p23.1 deletion syndrome	Abnormal heart morphology, Atrioventricular canal defect, Congenital diaphragmatic hernia, Crypto...	DECIPHER:39
Congenital Fibrinogen Deficiency	Gingival bleeding, Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertro...	ORPHA:335
Cadds	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Ch...	ORPHA:369942
Spondyloepiphyseal Dysplasia Congenita	Hypoplasia of the odontoid process, Hearing impairment, Limited hip movement, Delayed pubic bone ...	OMIM:183900
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Axonal degener...	OMIM:616155
Lethal Faciocardiomelic Dysplasia	Hypoplastic left heart, Short 5th finger, Microretrognathia, Microglossia, Sandal gap, Short tibi...	ORPHA:1972
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Postaxial foot polydactyly, Hypogonadism, External genital hypoplasia, Re...	OMIM:615981
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti...	ORPHA:93346
Thanatophoric Dysplasia, Type I	5-minute APGAR score of 1, Neonatal death, Bowing of the long bones, Short neck, Breech presentat...	OMIM:187600
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Insulin-resistant diabetes mellitus, Iv...	OMIM:226980
Aortic Valve Disease 3	Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi...	OMIM:618496
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Carious teeth, Yellow nails, Sparse lateral eyebrow, Facial telangiectasia, Nail dystro...	OMIM:614564
Greenberg Dysplasia	Platyspondyly, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis b...	ORPHA:1426
Grant Syndrome	Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Abnormality of the glenoid fossa,...	ORPHA:2097
Nijmegen Breakage Syndrome	Recurrent pneumonia, Sandal gap, Cleft upper lip, Malar prominence, Micrognathia, Recurrent bronc...	OMIM:251260
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Recon Progeroid Syndrome	Dental crowding, Long thumb, Prominence of the premaxilla, Arachnodactyly, Smooth philtrum, Micro...	OMIM:620370
Wieacker-Wolff Syndrome, Female-Restricted	Hip dislocation, Radial deviation of the hand, Microretrognathia, Downturned corners of mouth, Lo...	OMIM:301041
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Hydroureter, Sideroblastic anemia, Sensorineural hearing impairment, Hydronephrosi...	OMIM:598500
Cowden Syndrome 1	Hearing impairment, Lymphopenia, Micrognathia, Narrow mouth, Ovarian cyst, High palate, Varicocel...	OMIM:158350
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Maternal diabetes,...	ORPHA:2248
Al-Raqad Syndrome	Low-set ears, Sandal gap, Narrow mouth, Joint hypermobility, Thin upper lip vermilion, Atrial sep...	OMIM:616459
Marshall Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Long p...	ORPHA:560
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Coarse hair, Hearing impairment, Dense calvaria, He...	OMIM:252920
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ...	ORPHA:97214
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ventriculomegaly, Everted upper lip vermilion, Retrognathia, Hepatosplenomegaly,...	OMIM:608013
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Kaposi Sarcoma	Lymphedema, Abnormality of the spleen, Abnormality of the liver, Venous insufficiency, Generalize...	ORPHA:33276
Congenital Tracheal Stenosis	Abnormal earlobe morphology, Abnormality of the ureter, Anomalous origin of left pulmonary artery...	ORPHA:141127
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Cl...	OMIM:184250
Atelis Syndrome 2	Clinodactyly, Downturned corners of mouth, Diastema, Thick lower lip vermilion, Elevated circulat...	OMIM:620185
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Tubulinopathy-Associated Dysgyria	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormality ...	ORPHA:467166
Thymic-Renal-Anal-Lung Dysplasia	Renal agenesis, Ureteral agenesis, Oligohydramnios, Abnormality of the endocrine system, Anal atr...	OMIM:274265
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Ventriculomegaly	OMIM:115210
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Posta...	OMIM:614500
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys...	OMIM:617719
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscle fiber atrophy, Open mouth, Protruding tongue, Arrhythmia, Recurrent lower respiratory trac...	ORPHA:258
Agel Amyloidosis	Sparse hair, Xerostomia, Hearing impairment, Cardiomyopathy, Bruising susceptibility, Blepharocha...	ORPHA:85448
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Long-Olsen-Distelmaier Syndrome	Low-set ears, Premature rupture of membranes, Microspherophakia, Dilated cardiomyopathy, Secundum...	OMIM:620609
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Small hand, Elevated circulating hepatic transaminase concentration, Chondroiti...	OMIM:615273
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Narrow mouth, Postaxial polydactyly, Microcephaly, Thin vermilion border, High palat...	ORPHA:544254
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Toe syndactyly, Chiari malformation, Finger syndactyly, Polymicrogyria, Hand po...	ORPHA:60040
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Low-set ears, Abnormal B cell morphology, Depressed nasal bridge, Conductive hearing impairment, ...	OMIM:616910
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly	ORPHA:33402
Trisomy X	Precocious puberty, Multicystic kidney dysplasia, Joint hypermobility, Ventricular septal defect,...	ORPHA:3375
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology, Abnormality of the ankle...	ORPHA:163665
Popliteal Pterygium Syndrome	Bifid uvula, Fibrous syngnathia, Cleft upper lip, Cutaneous finger syndactyly, Lower lip pit, Cry...	OMIM:119500
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Osteopenia, Otosclerosis, Hearing impairment, Bruising susceptibility,...	OMIM:166200
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Ventriculomegaly, Broad thumb, Short thumb, Broad hallux, Micrognathia, Cryptorchidism, Periventr...	OMIM:620224
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Dental crowding, Lateral ventricle dilatation, Cerebral atrophy, Short p...	OMIM:617296
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Low-set ears, Lateral ventricle dilatation, Short lingual frenulum, Trident pelvis, Molar tooth s...	OMIM:619479
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Frontonasal Dysplasia 2	Cerebellar vermis hypoplasia, Conical tooth, Bilateral cryptorchidism, Widely spaced teeth, Agene...	OMIM:613451
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec...	OMIM:271665
Distal Deletion 6P	Abnormality of the dentition, Ventriculomegaly, Abnormal epiphysis morphology, Downturned corners...	ORPHA:96125
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Scoliosis, Skeletal muscle atrophy, Hearing impairment, Abnormal cerebellu...	OMIM:211530
Marshall-Smith Syndrome	Optic atrophy, Choanal atresia, Conductive hearing impairment, Retrognathia, Slender long bone, B...	ORPHA:561
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Cleft upper lip, Pseudobulbar paralysis, Sensorineural hearing impairment, ...	OMIM:607371
Frontofacionasal Dysplasia	Cranium bifidum occultum, Bifid uvula, Hypoplasia of the frontal bone, Cleft upper lip, Malar fla...	OMIM:229400
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Prominent nose, Prominent nasal bridge, Broad finger, ...	OMIM:302350
Cat-Eye Syndrome	Hearing impairment, Chorioretinal coloboma, Abnormal rib morphology, Renal hypoplasia/aplasia, Hy...	ORPHA:195
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Thyroid carcinoma, Penile freckling, Hepatic steatosis, Foot polydacty...	ORPHA:210548
Legius Syndrome	Acute monocytic leukemia, Male urethral meatus stenosis, Hearing impairment, Abnormal sternum mor...	ORPHA:137605
Branchio-Oculo-Facial Syndrome	Wide nasal bridge, Upper lip pit, Broad nasal tip, Conductive hearing impairment, Multicystic kid...	ORPHA:1297
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Low-set ears, Thoracic scoliosis, Bilateral cleft lip, Short neck, Pectus excavatum, Shield chest	OMIM:616994
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Ventriculomegaly, Broad thumb, Cerebellar atrophy, Prominent fingertip pads, Cerebral atrophy, Op...	OMIM:617804
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cerebellar at...	OMIM:203700
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right...	OMIM:610655
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Cerebellar atrophy, Congestive heart failure...	OMIM:620066
Bent Bone Dysplasia Syndrome 2	Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Atrial septal de...	OMIM:620076
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Delayed skeletal maturation, Irregular acetabular roof, Metaphyseal dysplasia, Red...	OMIM:617974
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Bilateral microphthalmos...	ORPHA:2399
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Ventriculomegaly, Hemiatrophy, Stippled calci...	OMIM:302960
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe...	ORPHA:93284
Coccidioidomycosis	Hearing impairment, Abnormality of the spleen, Abnormality of the female genitalia, Nuchal rigidi...	ORPHA:228123
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft lip, Supernumerary nipple, Anteverted nares, Micrognathia, Inguinal hernia, Subm...	OMIM:619122
Igg4-Related Dacryoadenitis And Sialadenitis	Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormal optic nerve morphology, Abnormality ...	ORPHA:79078
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Micrognathia, Narrow mouth, Sensorineural hearing impairment, Talipes equinovarus, Short neck, El...	OMIM:300990
Meckel Syndrome, Type 11	Polycystic kidney dysplasia, Occipital encephalocele, Polydactyly	OMIM:615397
Spondyloocular Syndrome	Low-set ears, Overlapping toe, Mitral valve prolapse, Sensorineural hearing impairment, Low poste...	OMIM:605822
Hall-Riggs Syndrome	Wide nasal bridge, Platyspondyly, Coarse hair, Abnormal epiphysis morphology, Downturned corners ...	ORPHA:2107
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue, Facial palsy, Abnormality of retinal pigmentation, Oculomotor nerve palsy	ORPHA:2743
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Lacrimal gland hypoplasia, Delayed eruption of pri...	OMIM:149730
Meier-Gorlin Syndrome 3	Recurrent pneumonia, Hypoplasia of the maxilla, Microretrognathia, Slender long bone, Patellar hy...	OMIM:613803
Monosomy 13Q14	Wide nasal bridge, Low-set ears, Webbed neck, Finger syndactyly, Prominent nasal bridge, Microgna...	ORPHA:1587
Osteoporosis-Pseudoglioma Syndrome	Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,...	ORPHA:2788
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, O...	ORPHA:231160
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Cryptorchidism, Horizonta...	OMIM:615633
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	High, narrow palate, Duplication of renal pelvis, Long philtrum, Endometrial carcinoma, Thick eye...	ORPHA:457212
Spondyloepiphyseal Dysplasia Congenita	Hearing impairment, Dysplasia of the femoral head, Micrognathia, Genu valgum, Barrel-shaped chest...	ORPHA:94068
Aica-Ribosiduria Due To Atic Deficiency	Low-set ears, Optic atrophy, Clitoral hypertrophy, Secundum atrial septal defect, Anteverted nare...	OMIM:608688
Pettigrew Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Basal ganglia calcification, Cerebral calcificati...	OMIM:304340
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Hypoplastic scapulae, Short 5th toe, Ventricular sept...	OMIM:181450
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Short philtrum, Mandibular prognathia	ORPHA:93945
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Single transverse palmar crease, Microp...	OMIM:619053
Proteus-Like Syndrome	Genu recurvatum, Thymus hyperplasia, Abnormality of the parathyroid gland, Bronchogenic cyst, Ope...	ORPHA:2969
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Orofaciodigital Syndrome Xix	Low-set ears, Carious teeth, Toe syndactyly, Postaxial foot polydactyly, Cleft soft palate, Narro...	OMIM:620107
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyl...	OMIM:119800
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Coarse hair, Conductive hearing impairme...	ORPHA:2095
Auriculocondylar Syndrome 4	Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Glossoptosis, Cleft palate	OMIM:620457
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Webbed neck, Tarsal synostosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecu...	OMIM:618469
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Broad thumb, Lip pit, Camptodactyly of finger, Supernumerary nipple, Bilateral single transverse ...	ORPHA:1236
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Abnormal metaphysis morp...	ORPHA:93304
Rothmund-Thomson Syndrome, Type 2	Small hand, Premature graying of hair, Micrognathia, Cryptorchidism, Sparse eyelashes, Telangiect...	OMIM:268400
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ovarian cyst, Bilateral sensorineural...	OMIM:614527
Cowden Syndrome 5	Hypoplasia of the maxilla, Colonic diverticula, Thyroid adenoma, Hearing impairment, Goiter, Furr...	OMIM:615108
Cowden Syndrome 6	Hearing impairment, Micrognathia, Narrow mouth, Ovarian cyst, High palate, Varicocele, Hypoplasia...	OMIM:615109
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Ventriculomegaly, Camptodactyly of finger, Micrognathia, Bilateral single transverse palmar creas...	ORPHA:2083
Pontocerebellar Hypoplasia, Type 2B	Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Hypoplasia ...	OMIM:612389
Brachyolmia, Maroteaux Type	Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis	ORPHA:93302
Pitt-Hopkins Syndrome	Small hand, Clinodactyly, Supernumerary nipple, Secondary microcephaly, Overlapping toe, Open mou...	OMIM:610954
Orofaciodigital Syndrome Type 3	Low-set ears, Bifid uvula, Abnormality of the dentition, Cerebellar vermis hypoplasia, Postaxial ...	ORPHA:2752
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Melas	Nephropathy, Focal segmental glomerulosclerosis, Type I diabetes mellitus, Proximal tubulopathy, ...	ORPHA:550
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Car...	ORPHA:14
Geleophysic Dysplasia 1	Aortic valve stenosis, Joint contracture of the hand, Hepatomegaly, Irregular capital femoral epi...	OMIM:231050
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Adams-Oliver Syndrome 5	Dystrophic toenail, Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Inguinal...	OMIM:616028
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Choanal atresia, Cerebellar vermis hypoplasia, Gastroesophageal refl...	ORPHA:98889
Bardet-Biedl Syndrome 22	Hypogonadism, Microcephaly, Postaxial foot polydactyly, Polydactyly	OMIM:617119
Craniolenticulosutural Dysplasia	Carious teeth, Cryptorchidism, Brittle hair, High palate, Sparse hair, Osteopenia, Gastroesophage...	OMIM:607812
Progressive Non-Infectious Anterior Vertebral Fusion	Wide nasal bridge, Depressed nasal bridge, Proximal radio-ulnar synostosis, Abnormality of the ve...	ORPHA:2062
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Low-set ears, Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof,...	OMIM:151210
Achondrogenesis, Type Ia	Low-set ears, Unossified vertebral bodies, Hypoplastic nasal bridge, Hypoplastic scapulae, Abnorm...	OMIM:200600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Cere...	OMIM:124000
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Chiari malformation, Hearing impairment, Cryptorchidism, Neonatal d...	OMIM:308205
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Limitation of joint mobi...	ORPHA:2619
Joubert Syndrome 27	Dilatation of the renal pelvis, Thick lower lip vermilion, Retinopathy, Polydactyly, Molar tooth ...	OMIM:617120
Coach Syndrome 3	Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int...	OMIM:619113
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur...	OMIM:614473
Holzgreve Syndrome	Webbed neck, Aplasia/Hypoplasia of the tongue, Macrotia, Abnormal mesentery morphology, Low-set, ...	ORPHA:2167
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar...	ORPHA:2298
Sclerosteosis 1	Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Tooth malposition, Dental malocclusion,...	OMIM:269500
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Micrognathia, Open mouth, Narrow mouth, Limited elbow movement, Talipes eq...	OMIM:615065
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Hearing impairment, Cryptorchidism, Pa...	OMIM:620327
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Abnormal hair morphology, Cryptorchidism, Agenesis of corpus callo...	ORPHA:2273
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Lip pit, Fibrous syngnathia, Finger syndactyly, Micrognathia, Cryptorchidism, Thi...	ORPHA:1300
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Ventriculomegaly, Cerebral atrophy, Cerebellar vermis atrophy, Hypoplasia of the corpus callosum,...	OMIM:615760
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Micrognathia, Cleft soft palate, Genu valgum, Metaphyseal dysplasia, A...	ORPHA:93316
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Cerebellar vermis hypoplasia, Ventriculomegaly, Retrocerebellar cyst, Microphallus, Cryptorchidis...	OMIM:300486
Three M Syndrome 2	Thin ribs, Clinodactyly, Prominent nasal tip, Short neck, High palate, Short 5th finger, Pectus c...	OMIM:612921
Achondroplasia	Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Prem...	OMIM:100800
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Ventriculomegaly, Cerebellar atrophy, Widely spaced teeth, Periventricular leukomalacia, Respirat...	OMIM:618547
Malan Overgrowth Syndrome	Ventriculomegaly, Optic disc hypoplasia, Slender long bone, Lateral ventricle dilatation, Hypopla...	ORPHA:420179
Severe Congenital Nemaline Myopathy	Low-set ears, Thin ribs, Breech presentation, Micropenis, Multiple prenatal fractures, Abnormalit...	ORPHA:171430
Microcephaly 3, Primary, Autosomal Recessive	Small cerebral cortex, Widely spaced teeth, Microcephaly, Primary microcephaly, Partial agenesis ...	OMIM:604804
Phelan-Mcdermid Syndrome	Ventriculomegaly, Dental malocclusion, Long philtrum, Widely spaced teeth, Micrognathia, Vesicour...	OMIM:606232
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Usher Syndrome Type 1	Vestibular hypofunction, Abnormal dental enamel morphology, Sensorineural hearing impairment, Apl...	ORPHA:231169
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Thick vermilion border, Clinodactyly...	ORPHA:228396
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormality of the thyroid gland...	ORPHA:186
Linear Verrucous Nevus Syndrome	Ventriculomegaly, Toe syndactyly, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia o...	ORPHA:2611
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, Hypogonadotropic hypogonadism, Microphthalmia, High palate, Cleft palate	ORPHA:1135
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Wide nasal bridge, Low-set ears, Downturned corners of mouth, Long philtrum, Narrow mouth, Joint ...	OMIM:617333
Beck-Fahrner Syndrome	Ventriculomegaly, Long philtrum, Open mouth, Periventricular leukomalacia, Ventricular septal def...	OMIM:618798
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Pectus carinatum, Long philtrum, Micrognathia, Malar flattening, Sensorineural hearing impairment...	ORPHA:166100
Joubert Syndrome 33	Syndactyly, Splenomegaly, Molar tooth sign on MRI, Cone/cone-rod dystrophy	OMIM:617767
Hartnup Disorder	Glossitis, Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria	OMIM:234500
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation...	ORPHA:488627
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Dysplasia of the femoral h...	OMIM:619127
Osteopetrosis, Autosomal Recessive 5	Diffuse white matter abnormalities, Hepatic failure, Ventriculomegaly, Long philtrum, Flared meta...	OMIM:259720
Moebius Syndrome	Hearing impairment, Finger syndactyly, Micrognathia, Open mouth, Talipes equinovarus, Aplasia/Hyp...	ORPHA:570
Craniotubular Dysplasia, Ikegawa Type	Wide nasal bridge, Optic atrophy, Platyspondyly, Broad femoral neck, Hearing impairment, Long phi...	OMIM:619727
Developmental And Epileptic Encephalopathy 65	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Tented upper lip vermilion, Microcephaly	OMIM:618008
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in lower limbs, Hand muscle atrophy, Sensorineural hearing impairment, F...	ORPHA:101085
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Ventricular septal defect, ...	OMIM:614262
Mednik Syndrome	Hepatic fibrosis, Cholestasis, Death in childhood, Death in infancy, Neonatal death, Cirrhosis	OMIM:609313
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Ear-Patella-Short Stature Syndrome	Elbow dislocation, Micrognathia, Narrow mouth, Patellar aplasia, Cryptorchidism, Hypospadias, Epi...	ORPHA:2554
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Optic disc pallor, Hydroureter, Wide anterior fontanel	OMIM:618240
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Promi...	ORPHA:71267
Incontinentia Pigmenti	Cerebral cortical atrophy, Deviation of finger, Delayed eruption of teeth, Finger syndactyly, Cam...	ORPHA:464
Pseudodiastrophic Dysplasia	Platyspondyly, Rhizomelia, Elbow dislocation, Malar flattening, Phalangeal dislocation, Talipes e...	ORPHA:85174
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Sensorineural hearing impairment, Beaking of vertebral bodies, Retinal de...	OMIM:609616
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal tibia morphology, Abnormality of the sphenoid sinus, Micrognathia, Genu valgum, Mitral r...	ORPHA:363700
Developmental And Epileptic Encephalopathy 102	Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect	OMIM:619881
Cronkhite-Canada Syndrome	Alopecia, Gastrointestinal carcinoma, Dystrophic toenail, Sparse body hair, Lymphedema, Furrowed ...	ORPHA:2930
Familial Isolated Restrictive Cardiomyopathy	Abnormal left ventricular function, Recurrent respiratory infections, Hypertrophic cardiomyopathy...	ORPHA:75249
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh...	OMIM:602557
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Delayed skeletal maturation, Genu valgum, Flat capital femoral epiphysis, Genu varum	OMIM:608361
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Bifid uvula, Spinal dysraphism, Absence of the sac...	OMIM:617660
Warburg Micro Syndrome 2	Global brain atrophy, Polymicrogyria, Secondary microcephaly, Overlapping toe, Cryptorchidism, Hy...	OMIM:614225
Melioidosis	Pneumonia, Hepatitis, Foot osteomyelitis, Parotitis, Shock, Abnormality of the spleen, Respirator...	ORPHA:31202
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor...	ORPHA:239
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Hirs...	OMIM:612847
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Pancytopenia, Micrognathia, Narrow mouth, Elliptocytosis, Hepatomegaly, Proxim...	ORPHA:2785
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Microcephaly, Agenesis of corpus callosum	ORPHA:1496
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Leukoencephalopathy, Ventriculomegaly, Global brain atrophy, Myelopathy, Dea...	OMIM:617186
Opsismodysplasia	Low-set ears, Renal phosphate wasting, Hypoplasia of the odontoid process, Bell-shaped thorax, Sh...	OMIM:258480
Xq12-Q13.3 Duplication Syndrome	Recurrent upper respiratory tract infections, Ventriculomegaly, Cutaneous finger syndactyly, Cryp...	ORPHA:314389
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Campomelia, Cumming Type	Polysplenia, Lymphedema, Bowing of the long bones, Cystic hygroma, Pancreatic cysts, Polycystic k...	OMIM:211890
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Recurrent fractures, Bowing of limbs ...	OMIM:259440
Pmm2-Cdg	Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of...	ORPHA:79318
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Hydrocephalus, Cryptorchidism, Microphthalmia	OMIM:601794
Osteogenesis Imperfecta, Type V	Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Abnormal pelvic girdle bone morphology, Ver...	OMIM:610967
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Lethal Congenital Contracture Syndrome Type 1	Webbed neck, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Limitation of joint ...	ORPHA:1486
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Ventriculomegaly, Microphallus, Abnormal cerebellum morphology, Cry...	OMIM:300957
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Abnormality of the dentition, Cleft upper lip, Hypogonadism, Abnormality of the ne...	OMIM:273400
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Sensorineural hearing impairmen...	OMIM:271700
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Low-set ears, Pulmonary hypoplasia, Cleft lip, Congenital pulmonary airway malformation, Hypoplas...	OMIM:611812
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Micr...	OMIM:614524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Ventriculomegaly, Hypoplasia of the pons, Cerebellar hypoplasia, Microcephaly, Cerebellar cyst	OMIM:613151
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Arrhythmia, Pancreatic islet cell adenoma, Retinal detachme...	ORPHA:892
Geroderma Osteodysplasticum	Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Femoral bowing, Malar fla...	OMIM:231070
Enlarged Parietal Foramina	Cleft lip, Occipital encephalocele, Broad thumb, Myelomeningocele, Venous malformation, Abnormal ...	ORPHA:60015
Diamond-Blackfan Anemia 16	Anemia, Atrial septal defect, Pulmonic stenosis	OMIM:617408
Tenorio Syndrome	Cerebral cortical atrophy, Recurrent pneumonia, Mandibular prognathia, Enuresis, Ventriculomegaly...	OMIM:616260
Braddock Syndrome	Micrognathia, Unilateral renal agenesis, Pulmonary fibrosis, Preaxial hand polydactyly	ORPHA:52047
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Micromelia, Jo...	ORPHA:1801
Treacher Collins Syndrome 1	Choanal atresia, Preauricular hair displacement, Sparse lower eyelashes, Conductive hearing impai...	OMIM:154500
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Abnormal ulnar meta...	ORPHA:85198
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Neuroendocrine neoplasm, Pituitary adenoma, Increased circul...	ORPHA:97289
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Abnormal retinal morphology, Albinism, Osteoporosis, Hypopigmentation of hair, Kyp...	ORPHA:2786
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development	Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Multiple Endocrine Neoplasia Type 2	Abnormal tongue morphology, Cervical neoplasm, Elevated urinary vanillylmandelic acid, Elevated u...	ORPHA:653
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Chiari malformation, Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular...	OMIM:271510
Spondyloenchondrodysplasia With Immune Dysregulation	Low-set ears, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Increased intervertebral...	OMIM:607944
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy,...	OMIM:614946
Norrie Disease	Abnormal helix morphology, Uterine rupture, Cryptorchidism, Sensorineural hearing impairment, Abn...	ORPHA:649
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnorm...	ORPHA:93351
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Micrognathia, Microphthalmia, Cerebell...	OMIM:614083
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ...	OMIM:619950
Craniolenticulosutural Dysplasia	Carious teeth, Decreased skull ossification, Brittle hair, High palate, Sparse hair, Wide nose, H...	ORPHA:50814
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia	OMIM:601809
Fibrochondrogenesis	Low-set ears, Hypoplastic scapulae, Bell-shaped thorax, Narrow mouth, Short neck, Hearing abnorma...	ORPHA:2021
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cone-shaped epiphysis, Pachygyria, Rhizomelic arm shortening, Iliac crest serration, Agenesis of ...	ORPHA:93317
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Hematuria, Bilateral cleft palate	ORPHA:1473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Cerebellar dy...	OMIM:253280
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto...	ORPHA:93322
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft palate, Cleft upper lip	OMIM:137215
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short...	OMIM:169550
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib...	OMIM:122600
Gillespie Syndrome	Ventriculomegaly, Cerebellar atrophy, Hypoplasia of the iris, Aniridia, Truncus arteriosus, Cereb...	OMIM:206700
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent...	OMIM:620376
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Low-set ears, Overlapping toe, Carpal bone hypoplasia, Short neck, Thoracolumbar scoliosis, Short...	OMIM:616723
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of the dentition, Ventriculomegaly, Elevated circulating hepatic transaminase concent...	ORPHA:88618
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Recurrent otitis media, Hepatosplenomegaly, Genu valgum, Open mouth, Talipes equinovarus, Everted...	OMIM:301066
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ...	OMIM:604864
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Cerebral atrop...	OMIM:613658
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Fibrous Dysplasia Of Bone	Hearing impairment, Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology...	ORPHA:249
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Igg4-Related Submandibular Gland Disease	Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of ...	ORPHA:449432
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficien...	OMIM:609583
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Patent foram...	OMIM:618748
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Ce...	ORPHA:227982
Christian Syndrome	Wide nasal bridge, Thoracic hemivertebrae, Prominent metopic ridge, Abducens palsy, Anal atresia,...	OMIM:309620
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos, Bicuspid aortic valve, Mic...	OMIM:619318
Refsum Disease	Abnormal epiphysis morphology, Cardiomyopathy, Renal insufficiency, Splenomegaly, Microphthalmia,...	ORPHA:773
Glycosylphosphatidylinositol Biosynthesis Defect 17	Clinodactyly of the 5th toe, Microcephaly, Dysplastic corpus callosum, Clinodactyly of the 5th fi...	OMIM:618010
Myasthenic Syndrome, Congenital, 10	Distal amyotrophy, Decreased fetal movement, Weakness of facial musculature, Proximal amyotrophy,...	OMIM:254300
Cole-Carpenter Syndrome 2	Platyspondyly, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Microretrognathia, Osteope...	OMIM:616294
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Elevated circulating aspartate aminotransferase concentration, Elevated circ...	OMIM:619481
Aortic Aneurysm, Familial Thoracic 10	Dental crowding, Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral re...	OMIM:617168
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Bive...	OMIM:619573
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Clinodactyly, Hypoplasia of the brainstem, Abnormality of the liver, Microcepha...	ORPHA:2169
Orofacial Cleft 15	Low-set ears, Sparse eyebrow, High anterior hairline, Palate fistula, Bulbous nose, Cryptorchidis...	OMIM:616788
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Bilateral cryptorchidism, Microphthalmia, Eclabion	OMIM:616395
Joubert Syndrome 20	Retinopathy, Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly, Molar tooth sign on MRI	OMIM:614970
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Low-set ears, Loose anagen hair, Cryptorchidism, Ventricular septal defect, Short neck, Atrial se...	OMIM:607721
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals	OMIM:269630
Auriculocondylar Syndrome	Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Abnormal pinna morphology, Dif...	ORPHA:137888
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
X-Linked Intellectual Disability, Cantagrel Type	Cerebral cortical atrophy, Ventriculomegaly, Tented upper lip vermilion, Hypoplasia of the corpus...	ORPHA:85277
Xp21 Deletion Syndrome	Finger clinodactyly, Adrenal insufficiency, Primary adrenal insufficiency, Agenesis of corpus cal...	ORPHA:261476
Orofaciodigital Syndrome X	Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b...	OMIM:165590
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Hypoplasia of the uterus, Skeletal muscle atrophy, ...	ORPHA:168563
Meningioma	Increased circulating prolactin concentration, Lower limb muscle weakness, Neoplasm of the poster...	ORPHA:2495
Cleft Velum	Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency, Aspiration pneumonia	ORPHA:99772
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Multiple Sulfatase Deficiency	Ventriculomegaly, Broad thumb, Cerebellar atrophy, Broad hallux, Cerebral atrophy, Abnormal periv...	OMIM:272200
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Microretrognathia, Hypoplasia of the zygomatic bone, Talipes equinovarus, Micro...	OMIM:613603
Osteogenesis Imperfecta, Type X	Thin ribs, Micrognathia, Genu valgum, Fibular bowing, Bowing of the long bones, Osteopenia, Thora...	OMIM:613848
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis, Camptodactyly of finger	ORPHA:3180
Transketolase Deficiency	Increased level of ribose in urine, Type I diabetes mellitus, Hearing impairment, Abnormal heart ...	ORPHA:488618
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Leukoencephalopathy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fa...	ORPHA:88639
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Genu v...	OMIM:620099
Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Micrognathia, Protruding tongue, High palate, Abnormal heart morphology, Inguinal h...	OMIM:617062
Bor Syndrome	Multicystic kidney dysplasia, Branchial cyst, Retrognathia, Hearing impairment, Atresia of the ex...	ORPHA:107
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Left ventricular noncompaction, Tricuspi...	OMIM:619167
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Lymphatic Malformation 13	Fetal pericardial effusion, Depressed nasal bridge, Fetal pleural effusion, Long philtrum, Lymphe...	OMIM:620244
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral...	OMIM:184252
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Ventricular septal defect...	OMIM:610832
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Cerebellar hypoplasi...	OMIM:618273
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Micrognathia, Cavum septum pellucidum, Microphthalmia	OMIM:617306
Phosphoribosylpyrophosphate Synthetase Superactivity	Low-set ears, Depressed nasal bridge, Increased phosphoribosylpyrophosphate synthetase level, Hea...	OMIM:300661
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Neurocutaneous Melanocytosis	Ventriculomegaly, Chiari malformation, Death in infancy, Aplasia/Hypoplasia of the cerebellum, Me...	ORPHA:2481
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intestinal malrotation, Micrognathia, Splenomegaly, Tibial bowing, Lower limb unde...	ORPHA:3035
Dubowitz Syndrome	Carious teeth, Delayed eruption of teeth, Velopharyngeal insufficiency, Hypoplasia of the iris, A...	OMIM:223370
Mohr-Tranebjaerg Syndrome	Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Abnorma...	ORPHA:52368
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Ventricular septal defect, Distichiasis, Varicose veins, Peripheral arterial s...	OMIM:126320
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Recurrent lower respiratory tract infections, Atrial septal defect, Delaye...	OMIM:617744
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Shoulder girdle muscle weakness, Myopathy, Patent foramen ovale, Hyperlordosis, Pelvic girdle mus...	OMIM:615156
Primary Non-Essential Cutis Verticis Gyrata	Scoliosis, Atrial septal defect, Ventricular septal defect	ORPHA:357225
Familial Multiple Lipomatosis	Ventriculomegaly, Cerebral calcification, Premature eruption of permanent teeth, Abnormal tricusp...	ORPHA:199276
Diamond-Blackfan Anemia 10	Low-set ears, Hearing impairment, Atresia of the external auditory canal, Micrognathia, Congenita...	OMIM:613309
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Carpal bone hypoplasia, Hepatomegaly, Ao...	OMIM:252600
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Leopard Syndrome 1	Low-set ears, Cryptorchidism, Aplasia of the ovary, Mitral valve prolapse, Sensorineural hearing ...	OMIM:151100
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Monosomy 22Q13.3	Dental crowding, Dental malocclusion, Umbilical hernia, Recurrent pyelonephritis, Vesicoureteral ...	ORPHA:48652
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Low-set ears, Dental malocclusion, Dental crowding, Cupped ear, Cleft...	OMIM:602483
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Rahman Syndrome	Ventriculomegaly, Cryptorchidism, Talipes equinovarus, Camptodactyly, Thin corpus callosum	OMIM:617537
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Fibrodysplasia Ossificans Progressiva	Alopecia, Conductive hearing impairment, Broad femoral neck, Small cervical vertebral bodies, Wid...	OMIM:135100
Avascular Necrosis Of Femoral Head, Primary, 2	Platyspondyly, Avascular necrosis of the capital femoral epiphysis	OMIM:617383
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Distal upper limb muscle weakness, Thin corpus callosum,...	OMIM:619653
Wars2-Related Combined Oxidative Phosphorylation Defect	Leukoencephalopathy, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ...	ORPHA:572798
Fraser Syndrome 2	Low-set ears, Atresia of the external auditory canal, Narrow mouth, Short neck, Rectal atresia, M...	OMIM:617666
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Thin ribs, Retrognathia, Bifid scrotum, Bilateral cry...	OMIM:300219
Intellectual Developmental Disorder, Autosomal Recessive 72	Wide nasal base, Low-set ears, Broad nasal tip, Secundum atrial septal defect, Long philtrum, Pro...	OMIM:618665
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia, Fro...	OMIM:606854
Pyruvate Carboxylase Deficiency	Ventriculomegaly, Increased caudate lactate level, Periventricular cysts, Agenesis of corpus call...	ORPHA:3008
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip, Absent radius	OMIM:179400
Early Infantile Epileptic Encephalopathy	Precocious puberty, Depressed nasal bridge, Cerebellar atrophy, Ureterocele, Umbilical hernia, Sh...	ORPHA:1934
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hearing impairment, Recurrent otitis media, Neonatal death, Breech presentation, Urinary incontin...	OMIM:616482
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Leukoencephalopathy, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Cardiomyopathy, Long...	OMIM:617710
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Congenital hypothyroidism, Rieger anomaly, Tented upper lip vermilion, Nep...	ORPHA:521445
Acrorenal-Mandibular Syndrome	Low-set ears, Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi...	OMIM:200980
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Type II diabetes mellitus, Brachydactyly, Anal atresia, Abnormal sacrum m...	ORPHA:1436
Cirrhotic Cardiomyopathy	Pulmonary edema, Arrhythmia, Cirrhosis, Elevated jugular venous pressure, Fourth heart sound, Rig...	ORPHA:57777
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter, Pulmonic stenosis, Sensorineural hearing impairment	OMIM:264140
White-Kernohan Syndrome	Low-set ears, Recurrent otitis media, Broad medial eyebrow, Rectovaginal fistula, Macrotia, Short...	OMIM:619426
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup...	ORPHA:79404
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Congestive...	OMIM:166210
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Pancreatic And Cerebellar Agenesis	Low-set ears, Pectus carinatum, Optic nerve hypoplasia, Secundum atrial septal defect, Pancreatic...	OMIM:609069
Angelman Syndrome	Cerebral cortical atrophy, Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth,...	OMIM:105830
Fanconi Anemia, Complementation Group E	Absent thumb, Short thumb, Horseshoe kidney, Abnormal heart morphology, Cryptorchidism, Microceph...	OMIM:600901
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Ce...	OMIM:615471
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Abnormal form of the vertebral bodies, Hearing impairme...	ORPHA:3109
Ring Chromosome 12 Syndrome	High, narrow palate, Low-set ears, Webbed neck, Symphalangism of the thumb, Secundum atrial septa...	ORPHA:1439
Amyloidosis, Finnish Type	Cardiomyopathy, Stage 5 chronic kidney disease, Decreased heart rate variability, Renal insuffici...	OMIM:105120
Microcephaly 30, Primary, Autosomal Recessive	Cerebral cortical atrophy, Ventriculomegaly, Secundum atrial septal defect, Cleft soft palate, Th...	OMIM:620183
Joubert Syndrome 8	Pigmentary retinopathy, Occipital encephalocele, Hepatomegaly, Molar tooth sign on MRI, Prolonged...	OMIM:612291
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Urinary incontinence, Atrial septal defect	OMIM:620094
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia, Broad femoral neck, Bruising susceptibility, Short femoral neck, Abnor...	ORPHA:157965
X-Linked Agammaglobulinemia	Alopecia, Recurrent pneumonia, Hepatitis, Osteomyelitis, Abnormality of the lymphatic system, Sen...	ORPHA:47
Orofaciodigital Syndrome Xvi	Low-set ears, Depressed nasal bridge, Postaxial foot polydactyly, Retrognathia, Hamartoma of tong...	OMIM:617563
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Oligohydramnios, ...	OMIM:271520
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Arteriovenous malformation, Congestive heart failure, Upper limb asymmetry, Neoplasm of the thyro...	ORPHA:137608
Antley-Bixler Syndrome	Choanal atresia, Narrow chest, Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of ...	ORPHA:83
Bruck Syndrome 1	Platyspondyly, Abnormality of the dentition, Ankle flexion contracture, Pectus carinatum, Vertebr...	OMIM:259450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hypoplasia of the pons, ...	OMIM:613154
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Renal...	ORPHA:275761
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Cerebellar vermis hypoplasia, Small hand, Secundum atrial septal defect, Heari...	OMIM:620455
Histidinuria-Renal Tubular Defect Syndrome	Rounded middle phalanx of finger, Histidinuria, Ventriculomegaly, Cerebral cortical atrophy, Long...	ORPHA:2158
Craniometadiaphyseal Dysplasia	Low-set ears, Carious teeth, Natal tooth, Absent paranasal sinuses, Broad long bones, Genu valgum...	OMIM:269300
Holoprosencephaly, Semilobar, With Craniosynostosis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Short distal phalanx of finger, Semilobar ...	OMIM:601370
Barber-Say Syndrome	Hypoplasia of the maxilla, Absent nipple, Dental malocclusion, Velopharyngeal insufficiency, Dela...	OMIM:209885
Ollier Disease	Platyspondyly, Precocious puberty, Micromelia, Joint stiffness, Anemia, Lymphangioma, Abnormal me...	ORPHA:296
Mandibuloacral Dysplasia	Alopecia, Abnormally large globe, Dental crowding, Contractures of the large joints, Insulin-resi...	ORPHA:2457
Leprosy	Epistaxis, Enlarged peripheral nerve, Abnormal facial skeleton morphology, Testicular mass, Alope...	ORPHA:548
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Small hand, Dilated third ventricle, Ventriculomegaly, Hypogonadism, Periventricular leukomalacia...	ORPHA:500055
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Renal insufficiency, Polydactyly, Postaxial polydactyly, Brachydactyl...	OMIM:615986
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Long neck, Delayed cranial suture closure, Recurrent oti...	OMIM:309350
Developmental And Epileptic Encephalopathy 90	Ankle clonus, Hypothyroidism, Limb hypertonia, Atrial septal defect, Fetal pyelectasis	OMIM:301058
Stickler Syndrome, Type Iv	Platyspondyly, Epiphyseal dysplasia, Short femoral neck, Hypoplastic iliac wing, Irregular femora...	OMIM:614134
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Coni...	OMIM:602400
Craniosynostosis 4	Ectopic posterior pituitary, Depressed nasal bridge, Lambdoidal craniosynostosis, Coronal cranios...	OMIM:600775
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Fetal distress, Osteomyelitis, Broad ribs, Splenomegaly, Joint swelling, Flaring of r...	OMIM:612852
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Bifid uvula, Nasal polyposis, Median cleft upper lip, High palate, Iris coloboma	OMIM:155145
Livedoid Vasculopathy	Graves disease, Polycythemia, Macular purpura, Varicose veins, Pancytopenia, Ischemic stroke, Leu...	ORPHA:542643
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Renal co...	OMIM:219730
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Low-set ears, Small scrotum, Clinodactyly, Triangular nasal tip, Micrognathia, Open mouth, Crypto...	OMIM:309580
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	ORPHA:562639
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph nod...	OMIM:620233
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebral cortical atrophy, Hepatic failure, Ventriculomegaly, Cerebellar atrophy, Delayed eruptio...	OMIM:301072
Ravine Syndrome	Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin...	ORPHA:99852
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Recurrent otitis media, Overlapping toe, Protruding tongue, Neutrophilia, Hepa...	ORPHA:99843
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Hyperoxaluria, Epiphyseal stippling, Renal cyst, Cirrhosis, Hepatomegaly	OMIM:601539
Glycine Encephalopathy With Normal Serum Glycine	Hand clenching, Ventriculomegaly, Retrognathia, Elbow flexion contracture, Overlapping toe, Hip c...	OMIM:617301
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Horseshoe kidney, Abnormal heart morphology, Cryptorchidism, Microceph...	OMIM:227650
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hearing impairment, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cry...	OMIM:617052
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Deviation of finger, Bruising susceptibility, Microcytic ...	ORPHA:903
Congenital Disorder Of Glycosylation, Type Iq	Polymicrogyria, Cerebellar vermis hypoplasia, Elevated circulating hepatic transaminase concentra...	OMIM:612379
Nijmegen Breakage Syndrome	Acute leukemia, Abnormal hair morphology, Short neck, Anal atresia, Non-midline cleft of the uppe...	ORPHA:647
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transamin...	ORPHA:26793
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Methylmalonic aciduria, Abnormal heart morphology, Reduced number of i...	ORPHA:79284
Maternal Uniparental Disomy Of Chromosome 2	Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Preaxial hand po...	ORPHA:96179
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Pontocerebellar Hypoplasia, Type 2E	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Secondary microcephaly, Micrognathia, Hyp...	OMIM:615851
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Alexander Disease	Precocious puberty, Cerebral calcification, Agenesis of corpus callosum, Hypothyroidism, Hydrocep...	ORPHA:58
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Tongue atrophy, Proximal muscle weakness in lower limbs, Proximal muscle weakness ...	ORPHA:99956
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Decreased response t...	OMIM:610978
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Horseshoe kidney, Cryptorchidism, Ventricular septal defect, Microceph...	OMIM:227645
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Patent foramen ova...	OMIM:610505
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Gastroesophageal reflux, Hearing impairment, ...	OMIM:620114
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Osteomyelitis, Abnormal sensory nerve conduction velocity, Axonal degener...	ORPHA:88628
Morquio Syndrome C	Platyspondyly	OMIM:252300
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatos...	ORPHA:93352
Birk-Landau-Perez Syndrome	Renal hypoplasia, Pachygyria, Stage 3 chronic kidney disease, Renal insufficiency, Agenesis of co...	OMIM:617595
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Abnormal mandi...	ORPHA:3201
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid...	ORPHA:64744
Short Stature, Microcephaly, And Endocrine Dysfunction	Tooth malposition, Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Clinodact...	OMIM:616541
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Ventriculomegaly, Cerebellar atrophy, Widely spaced teeth, Secondary microcephaly, Micrognathia, ...	OMIM:617193
Neuroocular Syndrome 1	Ankyloglossia, Hypoplasia of the fovea, Torus palatinus, Microphthalmia, Lens coloboma, Hyperexte...	OMIM:619539
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Micromelia, Coxa vara, Flared, irregular rib ends, S...	ORPHA:168555
Axial Osteomalacia	Osteomalacia, Myopathy, Renal cyst, Increased bone mineral density, Polycystic liver disease	OMIM:109130
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ...	ORPHA:85167
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Limitation of joint mobility, Arthrogryposis multiplex congenita, Non-midline cleft of the upper ...	ORPHA:1484
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Angioosteohypotrophic Syndrome	Upper limb undergrowth, Venous malformation, Aplasia/hypoplasia involving bones of the upper limb...	ORPHA:75508
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Absent thumb, Submucous cleft hard palate, Atrial septal defect, Pulmonic stenosis	OMIM:619239
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft of the upper lip, Tooth agenesis, Bilateral cleft palate, Meningocele, Hip disl...	ORPHA:2003
Trichothiodystrophy 1, Photosensitive	Retrognathia, Hypogonadism, Death in infancy, Triangular mouth, Microcephaly, Microphthalmia	OMIM:601675
Hypoglossia-Hypodactyly Syndrome	Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Hypoplasia of t...	ORPHA:989
Lynch Syndrome	Gastrointestinal hemorrhage, Pituitary adenoma, Cardiac diverticulum, Colon cancer, Pancreatic ad...	ORPHA:144
Deafness, Autosomal Dominant 75	Abnormal cochlea morphology, Sensorineural hearing impairment	OMIM:618778
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulin...	ORPHA:64
Unilateral Ocular Duplication	Median cleft upper lip, Encephalocele, Cleft palate	ORPHA:3374
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Ventriculomegaly, Cerebellar atrophy, Organic aciduria, Aspiration pneumonia, Renal tubular acido...	ORPHA:431361
Prader-Willi Syndrome	Small hand, Carious teeth, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus...	OMIM:176270
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Micromelia, Metaphyseal spurs, Thoracic hypoplasia, Irregular epiphyses, Posterior...	OMIM:608728
Combined Oxidative Phosphorylation Deficiency 25	Ventriculomegaly, Cerebellar atrophy, Hypoplasia of the pons, Long philtrum, Aspiration pneumonia...	OMIM:616430
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Congenital pulmonary airway malformation, Hepatitis...	ORPHA:436252
Oxoglutaric Aciduria	Abnormal urine alpha-ketoglutarate concentration, Skeletal muscle atrophy, Abnormality of Krebs c...	ORPHA:31
Axenfeld-Rieger Syndrome, Type 3	Cerebellar vermis hypoplasia, Hypoplasia of the iris, Malar flattening, Microdontia, Sensorineura...	OMIM:602482
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Mitral atresia, Simplified ...	OMIM:220111
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Micrognathi...	OMIM:619326
Cockayne Syndrome	Carious teeth, Absence of pubertal development, Basal ganglia calcification, Cerebral calcificati...	ORPHA:191
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Small scrotum, Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Spars...	ORPHA:2234
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Depressed nasal bridge, Highly arched eyebrow, Retrognathia, Underdeveloped nasal alae, Sensorine...	ORPHA:457351
Neurofibromatosis-Noonan Syndrome	Low-set ears, Depressed nasal bridge, Webbed neck, Neurofibroma, Secundum atrial septal defect, C...	OMIM:601321
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Roifman-Chitayat Syndrome	Pneumonia, Ventriculomegaly, Cone-shaped epiphysis, Umbilical hernia, Thin lower lip vermilion, S...	OMIM:613328
Radio-Renal Syndrome	High, narrow palate, Depressed nasal bridge, Multicystic kidney dysplasia, Chylothorax, Abnormal ...	ORPHA:3015
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Adrenal calcification, Cryp...	ORPHA:289548
Familial Osteodysplasia, Anderson Type	Tooth malposition, Carious teeth, Elbow dislocation, Abnormal earlobe morphology, Aplasia/hypopla...	ORPHA:2769
Odontoonychodermal Dysplasia	Sparse eyebrow, Dry hair, Short nail, Smooth tongue, Widely spaced primary teeth, Sparse body hai...	OMIM:257980
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Hypoplastic nasal bridge, Dilatation of the renal pelvis, Retrognathia, Long philtrum, Left ventr...	OMIM:620510
Luscan-Lumish Syndrome	Ventriculomegaly, Chiari malformation, Malar flattening, Polycystic ovaries, Advanced ossificatio...	OMIM:616831
Bardet-Biedl Syndrome 20	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Retinal vascular tort...	OMIM:619471
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Communicating hydrocephalus, Mal...	OMIM:617011
Developmental And Epileptic Encephalopathy 100	Small hand, Ventriculomegaly, Recurrent respiratory infections, Cerebral atrophy, Elbow flexion c...	OMIM:619777
Cockayne Syndrome A	Carious teeth, Square pelvis bone, Hypoplastic iliac wing, Basal ganglia calcification, Cryptorch...	OMIM:216400
Goldberg-Shprintzen Megacolon Syndrome	Ventriculomegaly, Finger syndactyly, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria,...	ORPHA:66629
Spinocerebellar Ataxia Type 1	Loss of Purkinje cells in the cerebellar vermis, Abnormal nerve conduction velocity, Optic atroph...	ORPHA:98755
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Short humerus, Brachydactyly, Partial agenesis of the corpus...	ORPHA:420794
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Dark urine, Pancreatitis...	ORPHA:521219
Familial Idiopathic Dilatation Of The Right Atrium	Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo...	ORPHA:1677
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Cryptorchidism, Agenesis of...	ORPHA:168558
Intellectual Developmental Disorder, X-Linked, Syndromic 33	High, narrow palate, Cerebellar vermis hypoplasia, Ventriculomegaly, Microretrognathia, Cerebella...	OMIM:300966
Deafness-Craniofacial Syndrome	Wide nasal bridge, Abnormality of the dentition, Underdeveloped nasal alae, Short lingual frenulu...	ORPHA:3241
Combined Oxidative Phosphorylation Deficiency 53	Secondary microcephaly, Death in childhood, Death in infancy, Dysplastic corpus callosum, Hepatom...	OMIM:619423
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Atrial septal defect, Decreased liver fu...	OMIM:615160
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Gastroesophageal reflux, Patent foramen ovale, Bradycardia	OMIM:617182
Achondrogenesis, Type Ii	Microretrognathia, Abnormally large globe, Edema, Long philtrum, Broad long bones, Short tubular ...	OMIM:200610
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Ventriculomegaly, Hypoplasia of the iris, Hydrocephalus, Nasofrontal encep...	OMIM:614195
Argininosuccinic Aciduria	Aminoaciduria, Hepatic fibrosis, Oroticaciduria, Elevated circulating aspartate aminotransferase ...	OMIM:207900
Clapo Syndrome	Macrodactyly, Narrow chest, Lymphedema, Capillary malformation of the lip, Venous malformation, G...	ORPHA:168984
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Conductive hearing impairment, Hearing ...	OMIM:616229
Joubert Syndrome 25	Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:616781
Klippel-Feil Syndrome 3, Autosomal Dominant	Chorioretinal coloboma, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoraci...	OMIM:613702
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Neurodegeneration And Seizures Due To Copper Transport Defect	Ventriculomegaly, Cerebellar atrophy, Short tibia, Cerebral atrophy, Glandular hypospadias, Cardi...	OMIM:620306
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Pectus carinatum, Micromelia, Supernumerary nipple, Abnormal tibi...	ORPHA:64755
X-Linked Dominant Chondrodysplasia Punctata	Epiphyseal stippling, Hydronephrosis, Talipes equinovarus, Neonatal epiphyseal stippling, Microph...	ORPHA:35173
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Hearing impairment, Aplasia/hypoplasia of the uterus, Renal agenesis, Azoospermia, Vertebral segm...	ORPHA:2578
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atr...	OMIM:620285
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Tongue atrophy, Distal amyotrophy, Decreased motor nerve conduction velocity, Faci...	ORPHA:99949
Fanconi Anemia, Complementation Group J	Short thumb, Microphthalmia	OMIM:609054
W Syndrome	Abnormality of the scalp hair, Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvul...	ORPHA:2804
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Low-set ears, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar h...	OMIM:612813
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla...	OMIM:208230
Nephronophthisis 11	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts,...	OMIM:613550
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Developmental And Epileptic Encephalopathy 18	Aortic regurgitation, Highly arched eyebrow, Oligohydramnios, Atrial septal defect, Polyhydramnios	OMIM:615476
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology, Vertigo, Angioedema, Syncope, Periorbital ed...	ORPHA:97230
Lymphangiectasia, Intestinal	Edema, Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopenia, Stillbirth, Prominent ...	OMIM:152800
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Skeletal muscle atrophy, Cerebellar atrophy, Cerebellar cyst, Flexion cont...	OMIM:614678
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Hypophosphatasia	Abnormality of the dentition, Narrow chest, Emphysema, Bowing of the long bones, Abnormal rib mor...	ORPHA:436
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Depressed nasal ridge, Hypotension, Osteopenia, Ectopic anterior pit...	ORPHA:90695
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in lower limbs, Joint contracture of the hand, Hearing impairment, Motor...	ORPHA:466768
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Toe syndactyly, Conductive hearing impairment, Broad hallux, Unde...	OMIM:184460
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Precocious puberty, Small hand, Small pituitary gland, Central hypothyroidi...	ORPHA:398079
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal, Atrial septal defect	OMIM:113301
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Webbed neck, Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Cleft ...	OMIM:602196
Penile Agenesis	Cryptorchidism, Ventricular septal defect, Urethral atresia, male, Urethral fistula, Atrial septa...	ORPHA:49
Pontocerebellar Hypoplasia, Type 10	Cerebral cortical atrophy, Ventriculomegaly, Reduced cerebral white matter volume, Widely spaced ...	OMIM:615803
Renal Agenesis, Bilateral	Low-set ears, Depressed nasal ridge, Renal agenesis, Abnormal morphology of female internal genit...	ORPHA:1848
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Hypoplasia of the maxil...	ORPHA:3044
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:177901
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Hearing impairment, Slender long bone, Micrognathia, Protru...	OMIM:259420
Usher Syndrome Type 3	Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment	ORPHA:231183
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	2-3 toe cutaneous syndactyly, Cerebellar vermis hypoplasia, Gastroesophageal reflux, Secundum atr...	OMIM:620242
Formiminoglutamic Aciduria	Abnormal circulating enzyme concentration or activity, Abnormal concentration of acylcarnitine in...	ORPHA:51208
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Clinodactyly, Overlapping toe, Micrognathia, Narrow mouth, Cryptorchidism, Hypoplasia...	OMIM:309590
Smith-Mccort Dysplasia 2	Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Short neck, Broad phalanx, ...	OMIM:615222
Ulbright-Hodes Syndrome	Low-set ears, Thin ribs, Clitoral hypertrophy, Fibular aplasia, Enlarged labia minora, Micrognath...	ORPHA:3404
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Abnormality of the ureter, Absent septum pellucidum, Agenesis of corpu...	ORPHA:3339
Holoprosencephaly 4	Depressed nasal bridge, Semilobar holoprosencephaly, Depressed nasal tip, Median cleft palate, Me...	OMIM:142946
Renal Nutcracker Syndrome	Varicocele, Dilatation of mesenteric artery, Renal artery stenosis, Hematuria, Proteinuria, Vulva...	ORPHA:71273
Aortic Valve Disease 2	Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa...	OMIM:614823
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Hydrocephalus, Cleft palate	ORPHA:2736
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Thin ribs, Arachnodactyly, Talipes equinovarus, Retinal detachm...	OMIM:225400
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Agenesis of corpus callosum, Talipes equinovarus,...	OMIM:618733
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Gastroesophageal reflux, Horizontal eyebrow, Lumbar hyperlordosis, Equinus calcaneus, Joint hyper...	ORPHA:522077
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Ureterocele, Decreased liver function, Decreased nerve conduction velocity, Adrena...	OMIM:614863
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Abnormal epiphysis morphology, Micromelia, Osteoarthritis, Short thorax	ORPHA:93283
9q subtelomeric deletion syndrome	Abnormal heart morphology, Anteverted nares, Protruding tongue, Short nose, Synophrys	DECIPHER:52
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,...	OMIM:614868
Cloacal Exstrophy	Ureterocele, Abnormal tibia morphology, Renal hypoplasia/aplasia, Talipes equinovarus, Abnormal f...	ORPHA:93929
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hypothyroidism,...	OMIM:620211
Combined Oxidative Phosphorylation Deficiency 39	Ventriculomegaly, Type I diabetes mellitus, Cerebellar atrophy, Cerebral atrophy, Death in childh...	OMIM:618397
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p...	OMIM:300106
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg...	OMIM:607326
Foix-Alajouanine Syndrome	Cervical myelopathy, Myelopathy, Urinary retention, Lower limb muscle weakness, Functional abnorm...	ORPHA:79093
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve...	OMIM:620639
Oeis Complex	Chiari malformation, Absent scrotum, Cryptorchidism, Talipes equinovarus, Micropenis, Duplicated ...	OMIM:258040
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Microcolon, Hydroureter, Megacystis, Umbilical hernia, Intestinal m...	ORPHA:2241
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:98754
Linear Nevus Sebaceus Syndrome	Ventriculomegaly, Adenoma sebaceum, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcifica...	ORPHA:2612
Lissencephaly Due To Lis1 Mutation	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Anterior pre...	ORPHA:95232
Joubert Syndrome 39	Hypoplastic left heart, Cerebellar vermis hypoplasia, Occipital encephalocele, Joint contracture ...	OMIM:619562
Traboulsi Syndrome	Bifid uvula, Homocystinuria, Dental malocclusion, Broad hallux, Retrognathia, Short finger, Malar...	OMIM:601552
Molybdenum Cofactor Deficiency, Type B	Increased urinary taurine, Decreased urinary urate, Ventriculomegaly, Long philtrum, Cerebral atr...	OMIM:252160
Alpha-Thalassemia	Cholelithiasis, Hyperplasia of the maxilla, Malar prominence, Hepatosplenomegaly, Hypersplenism, ...	ORPHA:846
Campomelic Dysplasia	Small abnormally formed scapulae, Ventriculomegaly, Femoral bowing, Micrognathia, Hypoplasia of o...	ORPHA:140
Angelman Syndrome	Optic atrophy, Mandibular prognathia, Precocious puberty in females, Gastroesophageal reflux, Fai...	ORPHA:72
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Hypoplasia of the maxilla, Tooth agenesis, Breast aplasia, Abnormal...	ORPHA:238468
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Micromelia, Narrow chest, Micrognathia, Femoral bo...	ORPHA:440354
Prader-Willi Syndrome	Premature adrenarche, Small hand, Periodontitis, Central adrenal insufficiency, Cryptorchidism, S...	ORPHA:739
Cardiomyopathy, Familial Hypertrophic, 27	Ventriculomegaly, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic...	OMIM:618052
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:98793
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Cryptorchidism, Hypothyroidism, Delayed puberty, Adrenal hypoplasia,...	ORPHA:95496
Xeroderma Pigmentosum, Complementation Group B	Ventriculomegaly, Cerebellar atrophy, Hypogonadism, Basal ganglia calcification, Microcephaly, Mi...	OMIM:610651
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Microcephaly, ...	OMIM:619272
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly, Hip osteoarthritis, Osteoarthritis, Flattened metatarsal heads, Flattened metacarp...	OMIM:271600
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Supernumerary nipple, Enlarged cerebellum, Cryptorchidism, Chordee, Hypospadias, Abnormality of c...	ORPHA:477993
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:177904
Primrose Syndrome	Hearing impairment, Sparse body hair, Genu valgum, Narrow mouth, Cryptorchidism, Hip contracture,...	OMIM:259050
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Retrognathia, Bifid scrotum, Glandular hypospadias, Polyhydramnios, Penile hypospadias...	ORPHA:456328
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum...	ORPHA:370997
Lennox-Gastaut Syndrome	Vertigo, Abnormal brainstem morphology	ORPHA:2382
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Thin ribs, Congenital contracture, Subdural hemorrhag...	OMIM:615368
Milroy Disease	Predominantly lower limb lymphedema, Ankle swelling, Abnormal venous morphology, Lymphedema, Vari...	ORPHA:79452
Mpdu1-Cdg	Ventriculomegaly, Decreased response to growth hormone stimulation test, Renal cortical cysts, Pr...	ORPHA:79323
Microtia	Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin...	ORPHA:83463
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Diffuse white matter abnormalities, Ventriculomegaly, Cerebellar atrophy, Abnormal periventricula...	ORPHA:466934
Renal Agenesis	Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Aplasia/hypoplasia of the uterus,...	ORPHA:411709
Congenital Disorder Of Glycosylation, Type Iim	Wide nasal bridge, Mandibular prognathia, Gastroesophageal reflux, Lateral ventricle dilatation, ...	OMIM:300896
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Sensorineural hearing impairment, Hydronephrosis,...	ORPHA:2838
Paternal Uniparental Disomy Of Chromosome 5	Abnormally large globe, Secundum atrial septal defect, Rhizomelic arm shortening, Renal duplicati...	ORPHA:96190
Manitoba Oculotrichoanal Syndrome	Bifid nasal tip, Anal stenosis, Broad nasal tip, Anteriorly placed anus, Abnormality of the hairl...	OMIM:248450
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Thin ribs, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec...	OMIM:618395
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Retinopathy, ...	ORPHA:743
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Abnormal venous morphology, Abnormal cerebral vascular morpholo...	ORPHA:276280
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Furrowed tongue, Facial palsy, Lymphadenopathy, Abnormal autonomic nervous sy...	ORPHA:2483
Eiken Syndrome	Delayed epiphyseal ossification, Chiari malformation, Clinodactyly, Long hallux, Long thumb, Elev...	OMIM:600002
Ablepharon Macrostomia Syndrome	Toe syndactyly, Hearing impairment, Atresia of the external auditory canal, Abnormal female exter...	ORPHA:920
Thoracic Outlet Syndrome	Abnormal rib morphology, Edema, Varicose veins	ORPHA:97330
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo...	ORPHA:2050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Small scrotum, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibul...	OMIM:276820
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Xerostomia, Hearing impairment, Finger syndactyly, Open bite, Ankyloglossia, N...	ORPHA:2907
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy...	ORPHA:3352
Orofaciodigital Syndrome Iii	Low-set ears, Bifid uvula, Postaxial foot polydactyly, Tongue nodules, Bulbous nose, Microdontia,...	OMIM:258850
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect, Gonadal dysgenesis, Decreased proportion of CD8-positive T cells, ...	OMIM:611926
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormal rib mor...	ORPHA:1836
Fraser Syndrome 3	Low-set ears, Small scrotum, Hypoplasia of the bladder, Bilateral renal agenesis, Short toe, Abno...	OMIM:617667
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Increased urine alpha-ketoglutarate concentration, Ventriculomegaly, L-2-hydroxyglutaric aciduria...	OMIM:615182
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Small hand, Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum,...	ORPHA:2714
Robin Sequence With Cleft Mandible And Limb Anomalies	Low-set ears, Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short...	OMIM:268305
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Abducens palsy, ...	ORPHA:91349
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Bruising susceptibility, Arterial rupture, Recurrent joint dislocation, Inguinal hernia, Joint hy...	OMIM:619115
Spastic Paraplegia 51, Autosomal Recessive	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Talipes equinovarus, Microcephal...	OMIM:613744
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Ventriculomegaly, Atelectasis, Hepatocellular necrosis, Hepatosplenomega...	OMIM:618278
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Hypertrophic cardiomyopathy, Elevated circulating aspar...	OMIM:614582
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Chiari malformation, Clinodactyly, High palate, Chronic otitis media...	OMIM:614188
Plasminogen Deficiency, Type I	Nephritis, Recurrent upper respiratory tract infections, Ventriculomegaly, Periodontitis, Gingiva...	OMIM:217090
Gjc2-Related Late-Onset Primary Lymphedema	Facial edema, Predominantly lower limb lymphedema, Ankle swelling, Genital edema, Abnormal lympha...	ORPHA:568051
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased urine alpha-ketoglutarate concentration, Hepatic failure, Elevated circulating hepatic ...	OMIM:619355
Intellectual Developmental Disorder, Autosomal Dominant 29	Low-set ears, Hearing impairment, Ankyloglossia, Cutaneous finger syndactyly, Open mouth, Cryptor...	OMIM:616078
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Increased bone mineral density, Short t...	ORPHA:85184
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Lymphadenopathy, Macroglossia, Glo...	ORPHA:2221
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Decreased muscle mass, Recurr...	OMIM:616507
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Retrognathia, Slender long bone, Micrognathia, Vesicoureteral reflux, Nonimmune hydrop...	OMIM:618265
Osteogenesis Imperfecta, Type Xviii	Wide nasal bridge, Abnormality of the dentition, Thin ribs, Umbilical hernia, Long eyelashes, Mic...	OMIM:617952
Gapo Syndrome	High, narrow palate, Ventriculomegaly, Eruption failure, Long philtrum, Thick lower lip vermilion...	OMIM:230740
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Depressed nasal bridge, Oligohydramnios, Cryptorchidism, Sensorineural hearing impairment, Postax...	OMIM:615824
Lowe Oculocerebrorenal Syndrome	Proximal renal tubular acidosis, Aminoaciduria, Joint contracture of the hand, Finger swelling, V...	OMIM:309000
Stüve-Wiedemann Syndrome	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion...	ORPHA:3206
Mucoepithelial Dysplasia, Hereditary	Cor pulmonale, Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Hearing impairment, Erythem...	OMIM:158310
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Purpura, Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:745
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Stapes ankylosis, Se...	ORPHA:90646
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Gastroesophageal reflux, Limitation of joint mobility, Interphalangeal joint con...	OMIM:151200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Low-set ears, Depressed nasal bridge, Reduced natural killer cell count, Pneumonia, Anteverted na...	OMIM:242860
Hereditary Mucoepithelial Dysplasia	Alopecia, Fine hair, Abnormal morphology of female internal genitalia, Furrowed tongue, Anorectal...	ORPHA:1839
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu...	OMIM:619598
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Male hypogonadism, Hypergonadotropic hypogonadism, Superior ri...	OMIM:307500
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Bilateral microphthalmos, Decreased testicular size, Persistence of primary teeth,...	ORPHA:93325
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Recurrent upper respiratory tract infect...	OMIM:210900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Platyspondyly, Pneumonia, Severe B lymphocytopenia, Recurrent pneumonia, Abnormal pelvic girdle b...	OMIM:102700
Intellectual Developmental Disorder, Autosomal Dominant 58	Wide nasal bridge, Broad nasal tip, Dental crowding, Protruding tongue, Submucous cleft hard pala...	OMIM:618106
Neurofaciodigitorenal Syndrome	Abnormal oral mucosa morphology, Unilateral renal agenesis, Hypoplasia of the premaxilla, Abnorma...	ORPHA:2673
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Diffuse white matter abnormalities, Ventriculomegaly, Cerebral cortical atrophy, Communicating hy...	ORPHA:457359
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria, Ventriculomegaly, T2 hypointense basal ganglia, Open o...	ORPHA:25
Sprengel Deformity	Neck muscle hypoplasia, Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bi...	OMIM:184400
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, Cryptorchidism, Microphthalmia	ORPHA:363741
Duodenal Atresia	Annular pancreas, Abnormality of the pulmonary artery, Polyhydramnios, Duodenal atresia, Abnormal...	ORPHA:1203
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Periodontitis, Retrogna...	OMIM:619269
Hennekam-Beemer Syndrome	Pneumonia, Ventriculomegaly, Camptodactyly of finger, Thick lower lip vermilion, Micrognathia, Mi...	ORPHA:2135
Aceruloplasminemia	Macular degeneration, Abnormal pancreas morphology, Congestive heart failure, Abnormal circulatin...	ORPHA:48818
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped...	ORPHA:99103
47,Xyy Syndrome	Low-set ears, Varicocele, Dysgenesis of the cerebellar vermis, Finger clinodactyly, Cerebellar dy...	ORPHA:8
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Long philtrum, Flared metaphysis, Broad ribs, Hirsu...	ORPHA:370930
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Ventriculomegaly, Long philtrum, Hypoplasia of the corpus callosum, Thin upper lip vermilion, Smo...	ORPHA:404473
Incontinentia Pigmenti	Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Breast hypoplasia...	OMIM:308300
Geroderma Osteodysplastica	Platyspondyly, Pectus carinatum, Mandibular prognathia, Abnormal epiphysis morphology, Abnormal f...	ORPHA:2078
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrop...	OMIM:619603
Lipoid Proteinosis	Abnormal oral mucosa morphology, Nasal polyposis, Microglossia, Recurrent respiratory infections,...	ORPHA:530
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Thin ribs, Hypoplasia of the pons, Bowing of limbs due to multiple fractures, Join...	OMIM:615220
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Hypoplasia of the iris, Decreased response to growth hormone stimulati...	OMIM:180500
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Webbed neck, Renal hypoplasia, Spinal dysraphism, Sandal gap, Venous malformation, ...	OMIM:612918
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val...	ORPHA:1880
Frontonasal Dysplasia 3	Cleft palate, Microphthalmia	OMIM:613456
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Atresia of the external auditory canal, Shortening of all phalanges of fingers, Wo...	OMIM:601356
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Ventriculomegaly, Cerebral hypoplasia, Abnormal cortical gyration, Umbilical hernia, Hypogonadism...	ORPHA:79351
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short...	OMIM:601438
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Absent internal auditory canal, Highly arched eyebrow, Sensory axonal neuropathy, Profound sensor...	OMIM:620469
Icf Syndrome	Low-set ears, Depressed nasal bridge, Recurrent respiratory infections, Umbilical hernia, Lymphop...	ORPHA:2268
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Cleft lip, Dental malocclusion, Cryptorchidism, Hypogonadotropic hypogonadism, Paran...	OMIM:603457
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Carious teeth, Delayed skeletal maturation, Delayed cranial suture closure...	ORPHA:93324
Woolly Hair Nevus	Precocious puberty, Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Enlarg...	ORPHA:79414
Joubert Syndrome 5	Nephronophthisis, Occipital encephalocele, Retinal coloboma, Renal cortical cysts, Reduced renal ...	OMIM:610188
Congenital Disorder Of Glycosylation, Type If	Ventriculomegaly, Cerebral atrophy, Renal cortical cysts, Death in infancy, Microcephaly, Thin ve...	OMIM:609180
Deafness, Autosomal Dominant 87	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment	OMIM:620281
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Conical tooth, Absent nipple, Hypoplasia of the maxilla, Everted...	OMIM:305100
Retinitis Pigmentosa 51	Macular degeneration, Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentatio...	OMIM:613464
Microtia-Anotia	Anotia, Holoprosencephaly, Microtia	OMIM:600674
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Delayed ske...	OMIM:602111
Xfe Progeroid Syndrome	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Renal insufficiency, P...	OMIM:610965
Choreoacanthocytosis	Temporomandibular joint crepitus, Lateral ventricle dilatation, Muscle fiber atrophy, Acanthocyto...	ORPHA:2388
Isotretinoin Embryopathy-Like Syndrome	Anotia, Micrognathia, Conotruncal defect, Hydrocephalus, Cleft palate, Microtia	OMIM:243440
Gangliocytoma	Pituitary prolactin cell adenoma, Abnormal brainstem morphology, Pituitary null cell adenoma, Abn...	ORPHA:251937
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Unilateral renal agenesis, Ventriculomegaly, Short distal phalanx...	ORPHA:221139
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Renal hypoplasia, Brachydactyly	OMIM:600151
Congenital Enterovirus Infection	Hepatic failure, Ventriculomegaly, Hepatitis, Cardiomyopathy, Cholestasis, Pleural effusion, Myoc...	ORPHA:292
Meester-Loeys Syndrome	Bifid uvula, Broad distal phalanx of finger, Pulmonary artery aneurysm, Ventriculomegaly, Umbilic...	OMIM:300989
Laurence-Moon Syndrome	Micropenis, Abnormality of the hand, Polydactyly	OMIM:245800
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr...	OMIM:610915
Bruck Syndrome 2	Platyspondyly, Osteopenia, Pectus carinatum, Hydroxyprolinuria, Elbow flexion contracture, Pteryg...	OMIM:609220
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Waardenburg Syndrome, Type 2E	Anosmia, Hypopigmentation of the fundus, Premature graying of hair, Ocular albinism, Hypoplasia o...	OMIM:611584
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascu...	OMIM:184100
Gaucher Disease	Gingival bleeding, Aortic valve calcification, Hematuria, Cirrhosis, Hepatomegaly, Cholelithiasis...	ORPHA:355
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Dilated cardiomyopathy, Carious teeth, Skeletal muscle atrophy, Gastroesophageal reflux, Anal fis...	ORPHA:89842
Auriculocondylar Syndrome 3	Bifid uvula, Bilateral conductive hearing impairment, Retrognathia, Question mark ear, Stenosis o...	OMIM:615706
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Broad thumb, Delayed skeletal maturation, Short 5th metacarpal, Femora...	OMIM:619638
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Carious teeth, Femoral bowing, Elevated circulating alkaline phosphata...	OMIM:126550
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Deafness, Autosomal Dominant 44	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:607453
Deafness, Autosomal Dominant 86	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:620280
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Microtia, first degree, Widely spaced teeth, Peg-shaped maxillary lateral incisors...	OMIM:610706
Joubert Syndrome 38	Ectopic posterior pituitary, Low-set ears, Small pituitary gland, Inferior cerebellar vermis hypo...	OMIM:619476
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae, Recurre...	OMIM:608681
Branchiogenic Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Atresia of the external auditory canal, Branch...	ORPHA:50815
Bazex-Dupre-Christol Syndrome	Coarse hair, Underdeveloped nasal alae, Trichorrhexis nodosa, Furrowed tongue, Low hanging colume...	OMIM:301845
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Hydroureter, Edema, Hydrometrocolpos, Mesoaxial hand polydactyly, Tra...	OMIM:236700
Leukodystrophy, Hypomyelinating, 12	Ventriculomegaly, Cerebellar atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, ...	OMIM:616683
Combined Oxidative Phosphorylation Deficiency 55	Ventriculomegaly, Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medulla...	OMIM:619743
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Low-set, posteriorly rotated ears, Abn...	ORPHA:1506
Hydranencephaly	Atrophic pituitary gland, Ventriculomegaly, Cerebral cortical atrophy, Abnormal corpus striatum m...	ORPHA:2177
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Ventriculomegaly, Advanced ossification of carpal bones, Reduced cerebral white matter volume, Sh...	OMIM:610442
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Microglossia, Radial deviation of the hand, Retrognathia, Short thumb, Microgna...	OMIM:227270
Deafness, Autosomal Dominant 77	Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment	OMIM:618915
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni...	OMIM:618699
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy, Dysphagia	OMIM:613435
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Ventriculomegaly, Hepatitis, Cholestasis, Portal hypertension, Renal i...	ORPHA:440713
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr...	OMIM:236730
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Carious teeth, Slender long bone, Delayed skeletal maturation, Decreased s...	OMIM:244460
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Abducens palsy, Ele...	ORPHA:91347
X-Linked Hypophosphatemia	Renal phosphate wasting, Limitation of joint mobility, Chiari malformation, Genu valgum, Elevated...	ORPHA:89936
Oculoauricular Syndrome	Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta, Short mand...	OMIM:612109
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Talipes equinovarus, Renal hypoplasia, Urethral obstruction, Preaxial hand polydactyly	OMIM:601389
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec...	OMIM:184095
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Tarsal sclerosis, Nodular regenerative hyperplasia of liver, Elevated...	ORPHA:404454
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ventriculomegaly, Dilated cardiomyopathy, Cerebral atrophy, Death in childhood, Left ventricular ...	OMIM:618321
Cowden Syndrome	Follicular thyroid carcinoma, Hearing impairment, Abnormality of the kidney, Adenoma sebaceum, Hi...	ORPHA:201
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Low-set ears, Depressed nasal bridge, High anterior hairline, Horizontal eyebrow, Tracheomalacia,...	OMIM:618797
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Bruck Syndrome	Platyspondyly, Pterygium, Joint stiffness, Recurrent fractures, Bowing of the long bones, Wormian...	ORPHA:2771
Fetal Cytomegalovirus Syndrome	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hepatitis, Cerebral ca...	ORPHA:294
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Unilateral microphthalmos, Splenomegaly	OMIM:615085
Camptodactyly Syndrome, Guadalajara Type 3	Wide nasal base, Sternocleidomastoid amyotrophy, Osteopenia, Broad nasal tip, Small hand, Broad c...	ORPHA:488434
Pontine Tegmental Cap Dysplasia	Ankle clonus, Sensorineural hearing impairment, Rib fusion, Pontine tegmental cap, Dysphagia, Hem...	OMIM:614688
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Shwachman-Diamond Syndrome 2	Normocytic anemia, Low-set ears, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neut...	OMIM:617941
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, W...	OMIM:619131
Colonic Atresia	Peptic ulcer, Colonic atresia, Abdominal situs inversus, Abnormal mesentery morphology, Duodenal ...	ORPHA:1198
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Ventriculomegaly, Prominent fingertip pads, Branchial anomaly, Single transverse palmar crease, T...	ORPHA:466950
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal b...	ORPHA:370022
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Ventricular septal defect, Microphthalmia, Osteopenia, Increased susceptibil...	OMIM:259770
Darier-White Disease	Palmar pits, Enlargement of parotid gland	OMIM:124200
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Sparse hair, Aplasia of the eccrine sweat glands, Lymphedema	OMIM:300291
Aspartylglucosaminuria	Mitral regurgitation, Reduced tissue aspartylglucosaminidase activity, Beaking of vertebral bodie...	OMIM:208400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Alopecia, Protein-losing enteropathy, Xerostomia, Gastrointestinal carcinoma, Nail ...	OMIM:175500
Molybdenum Cofactor Deficiency, Type A	Decreased urinary urate, Increased urinary taurine, Ventriculomegaly, Long philtrum, Cerebral atr...	OMIM:252150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Generalized edema, Hydroureter, Intestinal malrotation, Oligohydramnios, Fetal megacystis	OMIM:249210
Coffin-Lowry Syndrome	Narrow palate, Bifid sternum, Ventriculomegaly, Dental malocclusion, Thick lower lip vermilion, W...	OMIM:303600
Congenital Myopathy 13	Ventriculomegaly, Downturned corners of mouth, Micrognathia, Cryptorchidism, Microcephaly, Bilate...	OMIM:255995
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Ambiguous genit...	OMIM:618901
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Cupped ear, Nail dystrophy, Protruding ear, Atrial septal defect, Brittle hair, Macrogl...	ORPHA:93947
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Uret...	OMIM:143400
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra...	OMIM:108800
Lelis Syndrome	Yellow nails, Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Nail dystrophy, Hypodontia,...	ORPHA:140936
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Hearing impairment, White hair, Ocular albinism, Abnormal brainstem morpholog...	ORPHA:2720
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Recurrent otitis media, Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia...	OMIM:250420
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand	OMIM:122880
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, A...	ORPHA:158684
Lowry-Wood Syndrome	Platyspondyly, Epiphyseal dysplasia, Abnormal epiphysis morphology, Abnormality of nail color, El...	ORPHA:1824
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Renal cyst, Syndactyly, Hypospadias, Diabetes mellitus	OMIM:605231
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Plague	Hypotension, Inflammation of the large intestine, Lymphadenitis, Hearing impairment, Chapped lip,...	ORPHA:707
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Ventriculomegaly, Downturned corners of mouth, Long philtrum, Micrognathia, Renal cortical cysts,...	OMIM:618548
Spinocerebellar Ataxia Type 36	Loss of Purkinje cells in the cerebellar vermis, Tongue atrophy, Tongue fasciculations, Skeletal ...	ORPHA:276198
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met...	OMIM:113500
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Branchial fistula, Retrognathia, Cupped ear, Sen...	OMIM:602588
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Microcephaly, High palate, Microphthalmia	OMIM:110100
Prolactinoma	Central adrenal insufficiency, Abducens palsy, Elevated circulating growth hormone concentration,...	ORPHA:2965
Dohle Bodies And Leukemia	Secundum atrial septal defect, Leukocyte inclusion bodies, Lymphedema, Acute myeloid leukemia, An...	OMIM:223350
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of the dentition, Recurrent respiratory infections, Microphthalmia	ORPHA:1806
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Widely spaced teeth, Wide mouth, Limitation of movement at ankles, Protruding tongue, Dysphagia, ...	ORPHA:98794
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Recurrent pneumonia, Lateral ventricle dilatation, Optic nerve compression, Spleno...	OMIM:612301
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Premature ventricular contraction, Syncope, Tachycardia, Posteriorly...	OMIM:192445
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Hearing im...	ORPHA:261265
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Pterygium, Congenital pyloric ...	ORPHA:79403
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Carious teeth, IgA deposition in the glomerulus, Anal fissure, Ankyloglos...	ORPHA:79408
Chand Syndrome	Short fifth metatarsal, Imperforate hymen, Depressed nasal bridge, Hydroureter, Atelectasis, Agen...	ORPHA:1401
Familial Exudative Vitreoretinopathy	Microcephaly, Microphthalmia	ORPHA:891
Rodrigues Blindness	Tooth malposition, Microphthalmia	OMIM:268320
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Hydroureter, Abnormal heart morphology, Neonatal death, Hydronephrosis, Polyhydramnio...	OMIM:619362
Microphthalmia/Coloboma 9	Long philtrum, Microphthalmia	OMIM:615145
Pitt-Hopkins-Like Syndrome 2	Gastroesophageal reflux, Protruding tongue, Scoliosis, Wide mouth, Pulmonic stenosis	OMIM:614325
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Glucagonoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos...	ORPHA:97280
African Trypanosomiasis	Urinary incontinence, Ventriculomegaly, Myelopathy, Hepatosplenomegaly, Renal insufficiency, Abno...	ORPHA:3385
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, Esophagitis...	ORPHA:2908
Slc39A8-Cdg	Cerebral cortical atrophy, Ventriculomegaly, Cutaneous syndactyly of toes, Cerebellar atrophy, El...	ORPHA:468699
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Pendred Syndrome	Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin...	OMIM:274600
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations, Cerebellar atrophy, Hearing impairment, Skeletal muscle at...	OMIM:614153
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Lip pit, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1072
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Hydrocele testis, Patent foramen ovale	OMIM:618832
Microphthalmia/Coloboma 12	Optic nerve aplasia, Ventriculomegaly, Vesicoureteral reflux, Microphthalmia	OMIM:120200
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Neutropenia, Hepatomegaly, 3-Methylglutaric aciduria, Villous...	OMIM:557000
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Depressed nasal bridge, Slender finger, Secundum atrial septal defect, Hearing impairment, Tibial...	OMIM:613355
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Trichothiodystrophy 2, Photosensitive	Tiger tail banding, Agenesis of maxillary lateral incisor, Coarse hair	OMIM:616390
Kenny-Caffey Syndrome, Type 2	Basal ganglia calcification, Abnormality of the medullary cavity of the long bones, Thickened cor...	OMIM:127000
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Stage 5 chronic kidney disease, Death in childhood, Prote...	OMIM:609049
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Atrial Septal Defect 9	Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect	OMIM:614475
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Cerebellar atrophy, Organic aciduria, Sideroblastic anemia, Pappenheimer bod...	OMIM:301310
Aicardi-Goutières Syndrome	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Degeneration of the st...	ORPHA:51
Choanal Atresia	Recurrent respiratory infections, Chronic sinusitis, Polydactyly	ORPHA:137914
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Psoriasis 14, Pustular	Polyarticular arthritis, Furrowed tongue, Leukocytosis, Nail dystrophy, Oligoarthritis, Geographi...	OMIM:614204
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Protruding tongue, Smooth philtrum, Mandibular prognathia	OMIM:618732
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Hydroureter, Functional abnormality of the bladder, Hypernatremic dehydration,...	ORPHA:223
Glomuvenous Malformation	Arteriovenous malformation, Abnormal nasal cavity morphology, Oral mucosa nodule, Venous malforma...	ORPHA:83454
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Gastroesophageal reflux, Ventricular escape rhythm, Patent foramen ovale, Retinal degeneration, A...	ORPHA:542306
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Hearing impairment, Abnormality of exocrine pancreas physiology, He...	ORPHA:93111
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Hydroureter, Hypogonadism, Polydactyly, Hydronephrosis, Postaxial han...	OMIM:615989
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Tooth agenesis, Peg-shaped maxillary later...	OMIM:150400
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Xerostomia, Skeletal muscle atrophy, Lower limb muscle weakn...	ORPHA:803
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis...	OMIM:615710
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Widely spaced teeth, Wide mouth, Protruding tongue, Dysphagia, Hypopigmentation of hair, Mandibul...	ORPHA:98795
Angelman Syndrome Due To A Point Mutation	Widely spaced teeth, Wide mouth, Protruding tongue, Dysphagia, Hypopigmentation of hair, Mandibul...	ORPHA:411511
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar...	ORPHA:2307
Generalized Pustular Psoriasis	Elevated circulating hepatic transaminase concentration, Congestive heart failure, Lymphopenia, L...	ORPHA:247353
Pendred Syndrome	Nephropathy, Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impai...	ORPHA:705
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he...	ORPHA:70591
Oculopalatocerebral Syndrome	Microcephaly, Cleft palate, Microphthalmia	OMIM:257910
X-Linked Acrogigantism	Abnormal optic chiasm morphology, Pituitary adenoma, Increased circulating prolactin concentratio...	ORPHA:300373
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Ectopic posterior pituitary, Delayed skeletal maturation, Decreased response to growth hormone st...	ORPHA:67045
Hereditary Folate Malabsorption	Gastroesophageal reflux, Skeletal muscle atrophy, Recurrent respiratory infections, Recurrent uri...	ORPHA:90045
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage...	OMIM:601346
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Aortic regurgitation, ...	ORPHA:402075
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia	OMIM:612527
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Ventricular septal defect...	OMIM:258900
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Abnormal bleeding, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Oral leukoplakia, Elbow flexion contracture, Furrowed tongue, Nail dy...	OMIM:148210
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Ventriculomegaly, Cerebral atrophy, Secondary microcephaly, Death in i...	OMIM:617248
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl...	OMIM:613986
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u...	ORPHA:2973
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Cerebellar atrophy, Hearing impairment, Protruding tongue, Limb hypertonia	OMIM:619580
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u...	OMIM:137920
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Familial Acute Necrotizing Encephalopathy	Abnormal thalamus morphology, Abnormal brainstem morphology, Choroid hemorrhage, Cerebral edema, ...	ORPHA:88619
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Plummer-Vinson Syndrome	Narrow mouth, Intra-oral hyperpigmentation, Iron deficiency anemia, Esophageal web, Hypochromic m...	ORPHA:54028
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Hepatic failure, Hydroureter, Megacystis, Intestinal malrotation, Oligohydramnios, Po...	OMIM:619431
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Hartnup Disease	Gingivitis, Glossitis, Neutral hyperaminoaciduria, Abnormal urinary color	ORPHA:2116
Pyknoachondrogenesis	Low-set ears, Craniofacial hyperostosis, Hypoplastic ischia, Abnormal intramembranous ossificatio...	ORPHA:3003
Familial Cerebral Cavernous Malformation	Choroidal hemangioma, Neuroma, Venous malformation, Retinal cavernous hemangioma, Focal T2 hypoin...	ORPHA:221061
Fragile X-Associated Tremor/Ataxia Syndrome	Diffuse cerebellar atrophy, Hypotension, Urinary bladder sphincter dysfunction, Abnormal brainste...	ORPHA:93256
Metachromatic Leukodystrophy	Periventricular leukomalacia, Hyperintensity of cerebral white matter on MRI, Abnormal gallbladde...	ORPHA:512
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Abnormal pelvic girdle bone morphology, Hydroureter, Anteriorly placed...	OMIM:600057
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Leukoencephalopathy, Cerebellar atrophy, Focal cortical dysplasia, Hypoplasia of the iris, Ischem...	OMIM:175780
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Xeroderma Pigmentosum, Complementation Group D	Microcephaly, Microphthalmia	OMIM:278730
Czech Dysplasia	Platyspondyly, Limitation of joint mobility, Short toe, Short femoral neck, Thoracic kyphosis, In...	OMIM:609162
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Macrodactyly, Lymphedema, Capillary malformation of the lip, Venous malformation, Varicose veins	OMIM:613089
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Palmoplantar keratoderma, Smooth tongue, Distal lower limb amyotrophy, Nail dystrophy, ...	ORPHA:79396
Sacral Defect With Anterior Meningocele	Urinary retention, Myelomeningocele, Myeloschisis, Neurogenic bladder, Hydrocephalus, Bilateral t...	OMIM:600145
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Acrodermatitis Enteropathica	Alopecia, Furrowed tongue, Abnormal eyebrow morphology, Abnormality of the tongue, Glossitis, Che...	ORPHA:37
Isolated Arrhinia	Hypoplasia of the nasal bone, Microphthalmia	ORPHA:1134
Retinitis Pigmentosa 74	Pigmentary retinopathy, Polydactyly, Abnormal renal morphology, Rod-cone dystrophy, Optic disc pa...	OMIM:616562
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At...	OMIM:224700
X-Linked Dystonia-Parkinsonism	Protruding tongue, Impaired oropharyngeal swallow response, Aspiration pneumonia	ORPHA:53351
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Ascites, Bladder fistula, Oligohydra...	ORPHA:105
Ectodermal Dysplasia-Skin Fragility Syndrome	Sparse hair, Abnormality of the dentition, Alopecia universalis, Carious teeth, Anoperineal fistu...	ORPHA:158668
Distal Renal Tubular Acidosis	Osteomalacia, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Renal potassium was...	ORPHA:18
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia, Scoliosis	OMIM:619352
Deafness, X-Linked 2	Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari...	OMIM:304400
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Oligohydr...	ORPHA:1851
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Mitral...	OMIM:225250
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Aprosencephaly And Cerebellar Dysgenesis	Bifid uvula, Absent mesencephalon, Cerebellar dysplasia, Micrognathia, Talipes equinovarus, Apros...	OMIM:601374
Hypoglossia-Hypodactylia	Microglossia, Retrognathia, Adactyly, Aglossia, Micrognathia, Narrow mouth, Split hand	OMIM:103300
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea...	OMIM:167800
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Pachyonychia Congenita 3	Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Furrowed tongue, Nail dystrophy, Palmar ...	OMIM:615726
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho...	OMIM:619274

Histopathology

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

Phenotype	Allele	Zygosity	Sex	Life Stage
Lymph node - hyperplasia	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	HET		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rpgrip1l.

There are 13 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Detailed characterizations of cranial nerve anatomy in E14.5 mouse embryos/fetuses and their use as reference for diagnosing subtle, but potentially lethal malformations in mutants.	Frontiers in cell and developmental biology (November 2022)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC9682249
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC6459510
Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development.	JCI insight (February 2019)	Rpgrip1l^{tm1c(EUCOMM)Wtsi}	PMC6413800
Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone.	FASEB journal : official publication of the Federation of American Societies for Experimental Biology (August 2018)	Rpgrip1l^{tm1c(EUCOMM)Wtsi}	30133325
The role of Rpgrip1l, a component of the primary cilium, in adipocyte development and function.	FASEB journal : official publication of the Federation of American Societies for Experimental Biology (February 2018)	Rpgrip1l^{tm1c(EUCOMM)Wtsi} Rpgrip1l^{tm1a(EUCOMM)Wtsi}	29466054
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC5827107
Cilia and Obesity.	Cold Spring Harbor perspectives in biology (July 2017)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC5495057
Hypomorphism of Fto and Rpgrip1l causes obesity in mice.	The Journal of clinical investigation (April 2016)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC4855930
Primary cilia in energy balance signaling and metabolic disorder.	BMB reports (December 2015)	Rpgrip1l^{tm1a(EUCOMM)Wisi}	PMC4791320
Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.	Cell metabolism (May 2014)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC4131684
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Rpgrip1l^{tm1a(EUCOMM)Wtsi}	PMC3996542

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Rpgrip1l^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Rpgrip1l^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Rpgrip1l^{tm42837(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rpgrip1l MGI:1920563

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Histopathology

X-ray

X-ray

X-ray

X-ray

Legacy Phenotype Associated Images

Human diseases caused by Rpgrip1l mutations

Histopathology

IMPC related publications

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