Gene Summary

Name:
histocompatibility 13
Synonyms:
H-13,  1200006O09Rik,  Spp,  Hm13,  5031424B04Rik,  4930443L17Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased fasting circulating glucose level H13tm1b(KOMP)Wtsi HET Early adult 1.57×10-06
increased bone mineral content H13tm1b(KOMP)Wtsi HET   Early adult 7.93×10-06
preweaning lethality, complete penetrance H13tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal snout morphology H13tm1b(KOMP)Wtsi HET   Early adult 7.53×10-05

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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 Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Forepaw

15 Images

DSS Histology

Images

8 Images

Anti-nuclear antibody assay

Images

11 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

27 Images

Legacy Phenotype Associated Images

View all 150 images

View all 14 images

View all 7 images

Human diseases caused by H13 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to H13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diabetic Embryopathy
Hearing impairment, Cryptorchidism, Ventricular septal defect, Tetralogy of Fallot, Low-set, post... ORPHA:1926
Carpenter Syndrome 1
Low-set ears, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valg... OMIM:201000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Ventricular septal defe... ORPHA:508498
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial... OMIM:306955
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Conductive hearing impairment, Short toe, Sandal gap, Short 5th metacarpal, 11 pair... OMIM:617877
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal defect, At... OMIM:618316
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Low-set ears, Ventricular septal defect, Low posterior hairline, Atrial se... OMIM:220210
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Protein-losing enteropathy, Decreased liver function, Ascites, Decreased circulatin... OMIM:608104
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Overlapping fingers, Cryptorchidism... OMIM:301056
Recombinant Chromosome 8 Syndrome
Low-set ears, Joint contracture of the hand, Hearing impairment, Tetralogy of Fallot, Clinodactyl... OMIM:179613
Rubinstein-Taybi Syndrome 1
Low-set ears, Facial hypertrichosis, Broad thumb, Hearing impairment, Hypoplastic iliac wing, Fro... OMIM:180849
Primary Ciliary Dyskinesia
Hearing impairment, Atrial situs ambiguous, Recurrent otitis media, Pulmonary situs ambiguus, Rod... ORPHA:244
Fetal Trimethadione Syndrome
Low-set ears, Abnormal helix morphology, Tetralogy of Fallot, Ventricular septal defect, Transpos... ORPHA:1913
8P23.1 Microdeletion Syndrome
Low-set ears, Broad thumb, Cryptorchidism, Congenital diaphragmatic hernia, Short neck, High pala... ORPHA:251071
Peters Plus Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Cryptorchidism, Short neck, Anal atresia, Short foo... ORPHA:709
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Neonatal death, Dextrocardia, Absent radius, Anal atresia, Urethra... OMIM:314390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Retinal dyspl... OMIM:253800
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Myelopathy, Cranial nerve compression, Vertigo, Abnormal... ORPHA:268882
Genitopalatocardiac Syndrome
Low-set ears, Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the grea... OMIM:231060
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Low-set ears, Overlapping toe, Absent fifth metatarsal, Atrial sep... OMIM:620662
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda... ORPHA:261243
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Low-set ears, Clinodactyly, Cryptorchidism, Patent foramen ovale, Short neck, Coloboma, Transposi... OMIM:616789
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Chiari malformation, Generalized arterial to... OMIM:610168
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Hearing impairment, Aplasia/Hypoplasia of the th... ORPHA:1727
Alg12-Cdg
Abnormal peripheral nervous system morphology, Biventricular hypertrophy, Overlapping fingers, Cr... ORPHA:79324
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Delayed epiphyseal ossification, Enlarged metaphyses, Lateral ventricle dilatation,... OMIM:210710
Sotos Syndrome
Low-set ears, Long metacarpals, Genu valgum, Cryptorchidism, Ventricular septal defect, Long phal... OMIM:117550
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... ORPHA:1686
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Internally rotated shoulders, Recurrent otitis media, Hepatosplenomegaly, Cholestas... OMIM:619503
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Low-set ears, Broad thumb, Ventricular septal defect, Achalasia, Atrial septal defect, Short 5th ... OMIM:600987
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Toe syndactyly, Hearing impairment, Atresia of the external auditory canal... OMIM:601808
Intellectual Developmental Disorder, Autosomal Dominant 66
Low-set ears, Pectus carinatum, Toe clinodactyly, Secundum atrial septal defect, Aortic root aneu... OMIM:619910
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Cryptorc... OMIM:312870
Pallister-Hall Syndrome
Toe syndactyly, Auricular tag, Atresia of the external auditory canal, Broad thumb, Radial bowing... ORPHA:672
Loeys-Dietz Syndrome 1
Low-set ears, Hypoplasia of the musculature, Aortic root aneurysm, Chiari malformation, Mitral va... OMIM:609192
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Chorioretinal coloboma, Abnormal tibia mo... ORPHA:138
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Anomalous origin of left coronary artery from ... OMIM:618845
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Broad 2nd toe, Ventricular s... OMIM:280000
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Atri... ORPHA:371428
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Cerebellar vermis hypoplasia, Sparse eyebrow, Gastroesophageal reflux, Multiple muscular ventricu... OMIM:620070
Chromosome 9P Deletion Syndrome
Low-set ears, Ventricular septal defect, Short neck, Atrial septal defect, High palate, Hypospadi... OMIM:158170
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Low-set ears, Hearing impairment, Clinodactyly, Long hallux, Overlapping t... OMIM:618164
Snijders Blok-Campeau Syndrome
Low-set ears, Umbilical hernia, Inguinal hernia, Perimembranous ventricular septal defect, Atrial... OMIM:618205
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Cryptorchidis... OMIM:146510
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Sandal gap, Abnormal heart morphology, Decreased nerve conduction velocity, Fo... ORPHA:477817
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Bilateral conductive hearing impairment, Branchial cyst, Atresia of the external au... OMIM:620186
Charge Syndrome
Low-set ears, Lymphopenia, Cryptorchidism, Ventricular septal defect, Sensorineural hearing impai... OMIM:214800
Benign Schwannoma
Peripheral schwannoma, Vertigo, Schwannoma, Abnormality of the liver, Abnormal cranial nerve morp... ORPHA:252164
Ogden Syndrome
Low-set ears, Recurrent otitis media, Cryptorchidism, Ventricular septal defect, Pulmonary edema,... OMIM:300855
Weiss-Kruszka Syndrome
Low-set ears, Highly arched eyebrow, Cupped ear, Hearing impairment, Horizontal crus of helix, De... OMIM:618619
Trisomy 13
Low-set ears, Abnormal helix morphology, Chiari malformation, Abnormality of the ureter, Abnormal... ORPHA:3378
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Neu-Laxova Syndrome 1
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Cry... OMIM:256520
Ververi-Brady Syndrome
Low-set ears, Metaphyseal irregularity, Cupped ear, Transposition of the great arteries, Single u... OMIM:617982
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Hearing impairment, Finger syndactyly, Single ventricle, 2-5 finger syndact... OMIM:308050
Restrictive Dermopathy
Thin ribs, Low-set ears, Increased anterioposterior diameter of thorax, Large placenta, Atrial se... ORPHA:1662
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of toes, Macrotia, Tetralogy of Fallot, Recurrent otitis media, Cryptorchidism, Protrudi... ORPHA:3304
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, Hypoplastic scapulae, Abnormality of the costochondral junct... ORPHA:96334
Mosaic Trisomy 16
Short forearm, Hearing impairment, Clinodactyly, Large placenta, Ventricular septal defect, Singl... ORPHA:1708
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, High anterior hairline, Hearing impairment, Velopharyngeal insufficien... ORPHA:363444
3C Syndrome
Aortic valve stenosis, Low-set ears, Finger syndactyly, Chorioretinal coloboma, Abnormal mitral v... ORPHA:7
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Lateral ventri... ORPHA:96148
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a... ORPHA:2255
Sandestig-Stefanova Syndrome
Low-set ears, Highly arched eyebrow, Clinodactyly, Sparse medial eyebrow, Muscular ventricular se... OMIM:618804
Cardiospondylocarpofacial Syndrome
Low-set ears, Carpal synostosis, Recurrent otitis media, Congenital diaphragmatic hernia, Ventric... OMIM:157800
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula... OMIM:600001
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Sensorineur... ORPHA:226307
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Hearing impairment, Abnormal shoulder morphology, Abnormal c... ORPHA:2345
Meacham Syndrome
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar... OMIM:608978
Meckel Syndrome, Type 1
Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Chiari malformation, Clinodact... OMIM:249000
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Low-set ears, Asplenia, Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malr... OMIM:619657
Thakker-Donnai Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Congenital diaphragmatic hernia, Ventricular se... ORPHA:1780
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
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
Halperin-Birk Syndrome
Optic atrophy, Gastroesophageal reflux, Semilobar holoprosencephaly, Hearing impairment, Umbilica... OMIM:618651
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Low-set ears, Congenital shortened small intestine, Chiari malformation, Ventricular septal defec... OMIM:265380
Silver-Russell Syndrome Due To A Point Mutation
Low-set ears, Short 5th finger, Microphallus, Ectrodactyly, Small placenta, Oligohydramnios, Cryp... ORPHA:397590
Greenberg Dysplasia
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... OMIM:215140
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Cyclopia, Anal atresia, Thyroid hypoplasia, Holoprosencephaly, Hyp... ORPHA:2166
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Recurrent otitis media, Dextrotransposition of the great arteries, ... OMIM:619995
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Abnormal lung lobation, A... ORPHA:1120
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Clinodactyly, Cryptorchidism, Protruding tongue, Ventricular septal defect, Sensori... OMIM:301040
Treacher-Collins Syndrome
Abnormal hair morphology, Encephalocele, Cryptorchidism, Absent eyelashes, Abnormality of the mid... ORPHA:861
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory tract infecti... OMIM:619170
Ciliary Dyskinesia, Primary, 53
Cerebellar vermis hypoplasia, Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Ductus ... OMIM:620642
Monosomy 18Q
Aortic valve stenosis, Bilateral conductive hearing impairment, Sensorineural hearing impairment,... ORPHA:1600
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Cleft soft palate, Ulnar deviation of thumb, ... OMIM:142900
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low-set ears, Unilateral renal agenesis, Hypertrichosis, Muscular ventricular septal defect, Butt... OMIM:619227
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Acute megakar... OMIM:190685
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Ulnar deviation of finger, Broad thumb, Conduct... ORPHA:2876
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Oligohydramnios, Cryptorchidism, Cardiomegaly, Dysplastic corpus cal... OMIM:620135
Fetal Akinesia Deformation Sequence 1
Thin ribs, Low-set ears, Decreased muscle mass, Cryptorchidism, Hip contracture, Short neck, High... OMIM:208150
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:620294
Prune Belly Syndrome
Multicystic kidney dysplasia, Abnormality of the ureter, Cryptorchidism, Ventricular septal defec... ORPHA:2970
Carpenter Syndrome 2
Low-set ears, Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Sen... OMIM:614976
Noonan Syndrome
Abnormality of the spleen, Cryptorchidism, Sensorineural hearing impairment, Low posterior hairli... ORPHA:648
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic trans... ORPHA:66634
7Q31 Microdeletion Syndrome
Enuresis nocturna, Galactosuria, Low-set ears, Gastroesophageal reflux, Skeletal muscle atrophy, ... ORPHA:251061
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Horseshoe kidney, Tetralog... ORPHA:3097
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Precocious puberty, Hypoplasia of the pons, Anteriorly placed anus... ORPHA:280195
Emanuel Syndrome
Aortic valve stenosis, Low-set ears, Chiari malformation, Hearing impairment, Recurrent otitis me... ORPHA:96170
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Clinodactyly, Small placenta, Congenital sensorineur... ORPHA:73272
Congenital Disorder Of Glycosylation, Type Iie
Low-set ears, Overlapping fingers, Protruding tongue, Sensorineural hearing impairment, Short nec... OMIM:608779
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormality of the ureter, Cryptorchidism, Congenital diaphragmatic hernia, Sh... ORPHA:2311
Houge-Janssens Syndrome 3
Umbilical hernia, Muscular ventricular septal defect, Inguinal hernia, Atrial septal defect, High... OMIM:618354
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory ... OMIM:618254
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Low-set ears, High anterior hairline, Bifid uvula, Submucous cleft of sof... OMIM:301022
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Small placenta, Abnormal heart morphology, Abnor... ORPHA:439167
Birk-Aharoni Syndrome
Hearing impairment, Muscular ventricular septal defect, Thick eyebrow, Cryptorchidism, Macrocytic... OMIM:620071
Emanuel Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Cryptorchidism, ... OMIM:609029
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Intestinal malrota... ORPHA:3426
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... OMIM:115197
Trichohepatoenteric Syndrome 1
Low-set ears, Cholestasis, Large placenta, Ventricular septal defect, Cirrhosis, Brittle hair, He... OMIM:222470
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Viss Syndrome
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... OMIM:619472
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Broad thumb, Frontal balding, Overlapping toe, Sensorineural hearing impairment, Bi... OMIM:612474
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Chime Syndrome
Aplastic clavicle, Abnormality of the outer ear, Acute leukemia, Aplasia/Hypoplasia of the phalan... ORPHA:3474
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low-set ears, Short neck, Sprengel anomaly, Aplasia of the thymus, Atrial septal defect, Hypopara... OMIM:618223
Fryns Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Congenital diaphragmatic hernia, Agenesis of corpus... ORPHA:2059
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Hearing impairment, Hypoplasia of the pons, Overlapping toe, Cryptorchidis... ORPHA:163956
Giant Cell Arteritis
Optic atrophy, Vasculitis, Alopecia, Conductive hearing impairment, Aortic dissection, Double out... ORPHA:397
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Premature birth, Finger syndactyly, Thick eyebrow, Radioulnar synostosis, Abnor... ORPHA:3268
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Ventricular septal defect, Radioulnar syn... OMIM:192350
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Low-set ears, Bifid uvula, Camptodactyly of finger, Atrioventricular canal defect, Clinodactyly o... ORPHA:3047
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnorma... OMIM:614886
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Microphthalmia, Syndromic 2
Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Sensorin... OMIM:300166
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Apert Syndrome
Optic atrophy, Bifid uvula, Toe syndactyly, Conductive hearing impairment, Chiari malformation, F... ORPHA:87
Phace Syndrome
Retinal vascular malformation, Iris coloboma, Ectopic thyroid, Aortic root aneurysm, Abnormal ste... ORPHA:42775
Renpenning Syndrome
High, narrow palate, Iris coloboma, Alopecia, Abnormal hairshaft morphology, Skeletal muscle atro... ORPHA:3242
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal hip bone morphology, Vesicoureteral reflux, Abnormal aortic morphol... ORPHA:1166
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnorma... ORPHA:1354
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Hearing impairment, Sandal gap, Decreased nerve conduction velocity, Ventri... OMIM:616652
Feingold Syndrome Type 1
Toe syndactyly, Multiple muscular ventricular septal defects, Sensorineural hearing impairment, A... ORPHA:391641
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Cranial nerve compression, Schwannoma, Neoplasm, Abnormal glossopharyn... ORPHA:221098
Chromosome 6Q24-Q25 Deletion Syndrome
Low-set ears, Small hand, Lateral ventricle dilatation, Mitral valve prolapse, Sparse eyelashes, ... OMIM:612863
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Holoprosencephaly 13, X-Linked
Low-set ears, Alobar holoprosencephaly, Hearing impairment, Thoracic hemivertebrae, Ventricular s... OMIM:301043
Wrinkly Skin Syndrome
Low-set ears, Sparse hair, Hypoplasia of the musculature, Short nail, Premature rupture of membra... OMIM:278250
Short-Rib Thoracic Dysplasia 12
Low-set ears, Hypoplastic scapulae, Ventricular septal defect, Neonatal death, Short neck, Short ... OMIM:269860
Congenital Gerbode Defect
Bacterial endocarditis, Peripheral edema, Ventricular septal defect, Constrictive pericarditis, P... ORPHA:99095
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Frank-Ter Haar Syndrome
Low-set ears, Anterior concavity of thoracic vertebrae, Mitral valve prolapse, Ventricular septal... OMIM:249420
Congenital Alveolar Capillary Dysplasia
Abnormal vertebral morphology, Aortic valve stenosis, Absent gallbladder, Ventricular septal defe... ORPHA:210122
Degcags Syndrome
Chronic kidney disease, Low-set ears, Toe syndactyly, Hearing impairment, Oral-pharyngeal dysphag... OMIM:619488
22Q11.2 Deletion Syndrome
Low-set ears, Hearing impairment, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Shor... ORPHA:567
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Multicystic kidney dysplasia, Toe syndactyly, Cryptor... ORPHA:261344
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Low-set ears, High anterior hairline, Muscular ventricular septal defect, Brachydactyly, Adducted... OMIM:620062
Holoprosencephaly
Chorioretinal coloboma, Abnormality of the spleen, Encephalocele, Abnormal antihelix morphology, ... ORPHA:2162
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Neutropenia, Diaphyseal undertubulation, Hepato... ORPHA:175
Holt-Oram Syndrome
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Sprengel anomal... ORPHA:392
Hypothyroidism Due To Tsh Receptor Mutations
Abnormal epiphysis morphology, Elevated circulating thyroid-stimulating hormone concentration, Ed... ORPHA:90673
Alg3-Cdg
Hearing impairment, Cardiomyopathy, Decreased liver function, Abnormal uvula morphology, Hypoplas... ORPHA:79321
Doors Syndrome
Low-set ears, Atresia of the external auditory canal, Aspiration pneumonia, Adrenal hyperplasia, ... ORPHA:79500
Beckwith-Wiedemann Syndrome
Nephropathy, Subchorionic septal cyst, Chiari malformation, Hearing impairment, Abnormal earlobe ... ORPHA:116
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Jacobsen Syndrome
Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Multicystic kidney dysplasia, Toe synd... ORPHA:2308
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Hepatosplenomegaly, Abnormal mitral valve morphology, Sensorineura... ORPHA:217085
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Facial edema, Abnormal epiphysis mo... ORPHA:90674
Robinow Syndrome
Low-set ears, Multicystic kidney dysplasia, Ankyloglossia, Cryptorchidism, Ventricular septal def... ORPHA:97360
Vacterl/Vater Association
Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Cryptorchidism, Congeni... ORPHA:887
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Frontonasal Dysplasia 1
Low-set ears, Cranium bifidum occultum, Joint contracture of the hand, Conductive hearing impairm... OMIM:136760
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Vertebrobasilar dolichoectasia, Nephrolithiasis, Retinal detachment, L... ORPHA:521445
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Ventricular septal def... ORPHA:79345
Proteus Syndrome
Venous malformation, Splenomegaly, Kyphoscoliosis, Hemangioma, Multiple lipomas, Lipoma, Spinal c... OMIM:176920
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Hepatosplenomegaly, Abnormal mitral valve morphology, Sensorineura... ORPHA:217093
Mungan Syndrome
Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Abnormality of the autonomic ... OMIM:611376
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... ORPHA:1457
Noonan Syndrome 12
Chiari malformation, Glabellar hemangioma, Anteriorly placed anus, Tetralogy of Fallot, Decreased... OMIM:618624
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... OMIM:605376
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm... ORPHA:3427
Ciliary Dyskinesia, Primary, 37
Hearing impairment, Goiter, Situs inversus totalis, Right aortic arch, Hypothyroidism, Dextrocard... OMIM:617577
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Low-set ears, Joint contracture of the hand, Genu valgum, Cryptorchidism, Mitral valve... OMIM:182212
Alagille Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Nephrotic syndrome, Abnorma... ORPHA:52
Fumarase Deficiency
Aminoaciduria, Optic atrophy, Elevated urine fumaric acid level, Cutaneous leiomyoma, Intrahepati... OMIM:606812
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Aortic valve stenosis, Low-set ears, Sparse scalp hair, Hearing im... ORPHA:536471
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Hearing impairment, Finger syndactyly, Cryptorchidism, Abnormal gastrointestinal tr... ORPHA:2990
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impair... OMIM:253010
Wolcott-Rallison Syndrome
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepati... ORPHA:1667
Restrictive Dermopathy 1
Low-set ears, Increased anterioposterior diameter of thorax, Sparse eyelashes, Absent eyelashes, ... OMIM:275210
Congenital Syphilis
Pneumonia, Optic atrophy, Hearing impairment, Extramedullary hematopoiesis, Hepatosplenomegaly, L... ORPHA:499009
Phace Association
Optic atrophy, Cavernous hemangioma of the face, Arterial stenosis, Congenital hypothyroidism, Ve... OMIM:606519
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Sensorineural hearing impairment, Hepatomegaly, Abnormal heart ... ORPHA:580
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, Papillary renal cell carcinoma... ORPHA:97290
Distal Deletion 15Q
Low-set ears, Multicystic kidney dysplasia, Small hand, Hearing impairment, Genu valgum, Cryptorc... ORPHA:1596
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Facial capillary hem... ORPHA:818
Trisomy 8P
Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Cryptorchidism, ... ORPHA:264450
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Highly arched eyebrow, Sandal gap, Tetralogy of Fallot, Nail dystrophy, ... OMIM:300887
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Peripher... OMIM:156530
Toriello-Carey Syndrome
Low-set ears, Hearing impairment, Clinodactyly, Cryptorchidism, Agenesis of corpus callosum, Shor... ORPHA:3338
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Facial edema, Abnormal epiphysis morpho... ORPHA:95716
Mucopolysaccharidosis Type 3
Hearing impairment, Aspiration pneumonia, Urinary glycosaminoglycan excretion, Genu valgum, Abnor... ORPHA:581
10Q22.3Q23.3 Microduplication Syndrome
Low-set ears, Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology, Hypospa... ORPHA:276422
De Barsy Syndrome
Low-set ears, Prominent veins on trunk, Decreased muscle mass, Cryptorchidism, Ventricular septal... ORPHA:2962
Lethal Congenital Contracture Syndrome 10
Low-set ears, Increased variability in muscle fiber diameter, Overlapping fingers, Ventricular se... OMIM:617022
Osteogenesis Imperfecta
Thin ribs, Aortic root aneurysm, Hearing impairment, Abnormal tibia morphology, Enlarged vertebra... ORPHA:666
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, ... ORPHA:319487
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Sensorineural hearing impairment, Arachnodactyly, Atrial... ORPHA:314588
Mosaic Trisomy 9
Low-set ears, Endocardial fibroelastosis, Cryptorchidism, Ventricular septal defect, Short neck, ... ORPHA:99776
Spondylocostal Dysostosis 4, Autosomal Recessive
Aplasia of posterior communicating artery, Chiari type II malformation, Bell-shaped thorax, Short... OMIM:613686
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Sparse scalp hair, Increased circulating prolactin concentration, Recurrent otitis ... ORPHA:3455
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Fin... ORPHA:1507
1P36 Deletion Syndrome
Abnormality of the spleen, Cryptorchidism, Myopathy, Sensorineural hearing impairment, Generalize... ORPHA:1606
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves... OMIM:113650
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Low-set ears, Narrow chest, Abnormal clavicle morphology, Abnormal epiphysis morph... ORPHA:93267
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Short neck, Short hallux,... ORPHA:508488
Dextrocardia
Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Meckel diverti... ORPHA:1666
Parkes Weber Syndrome
Myelopathy, Urinary retention, Arteriovenous malformation, Vascular tortuosity, Lower limb muscle... ORPHA:90307
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Abnormality of the ureter,... ORPHA:798
Joubert Syndrome 15
Nephronophthisis, Preaxial polydactyly, Retinopathy, Exencephaly, Coloboma, Micropenis, Retinal d... OMIM:614464
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti... ORPHA:254534
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Ventricular hypertrophy, Aortic root aneurysm, Recurrent otitis media, Underdevelop... OMIM:620654
Hadziselimovic Syndrome
Low-set ears, Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Ventricular septal ... OMIM:612946
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Edema, Ascites, Microcytic anemia, Abnormal tricuspid valve morpholo... ORPHA:90308
Lateral Meningocele Syndrome
Low-set ears, Decreased muscle mass, Cryptorchidism, Ventricular septal defect, Bicuspid aortic v... OMIM:130720
Kagami-Ogata Syndrome
Thin ribs, Bell-shaped thorax, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Lon... OMIM:608149
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Cerebellar atrophy, High palate, Ventric... OMIM:620511
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, Frontal upsweep of hair, Ventricular septal defect, Sensorineural hearing impairmen... OMIM:612582
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Multicystic kidney dysplasia, Joint contracture of the hand, Fibular aplasia, Ventr... OMIM:300373
Koolen-De Vries Syndrome Due To A Point Mutation
Hearing impairment, Recurrent otitis media, Cryptorchidism, Hand muscle atrophy, Ventricular sept... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hearing impairment, Recurrent otitis media, Cryptorchidism, Hand muscle atrophy, Ventricular sept... ORPHA:363958
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Recurrent otitis... OMIM:620570
Pseudotrisomy 13 Syndrome
Low-set ears, Postaxial foot polydactyly, Encephalocele, Cryptorchidism, Ventricular septal defec... OMIM:264480
Craniodiaphyseal Dysplasia
Optic atrophy, Conductive hearing impairment, Stenosis of the external auditory canal, Diaphyseal... ORPHA:1513
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Um... ORPHA:1488
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Sensorineural hearing impairment... ORPHA:2790
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Low-set ears, Contracture of the distal interphalangeal joint of the fingers, Overlapp... ORPHA:83617
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Anencephaly, Transposition of the great arteries, Hydrocephalus,... OMIM:313850
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low-set ears, Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Low posterior hair... OMIM:617506
8P23.1 Duplication Syndrome
Highly arched eyebrow, Toe syndactyly, Hearing impairment, Tetralogy of Fallot, Adrenal insuffici... ORPHA:251076
Tick-Borne Encephalitis
Abnormal medulla oblongata morphology, Elevated circulating hepatic transaminase concentration, S... ORPHA:297
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, Anomalous origin o... ORPHA:2326
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Short 3rd metacarpal, Short 4th toe, Short thumb, 2-4 toe cutaneous syndactyly, Muscula... OMIM:618569
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death OMIM:620203
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Hearing impairment, Cryptorchidism, Bowing of the long bones, Abn... ORPHA:628
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Hearing impairment, Chorioretinal coloboma, Abnormal heart morphology, V... ORPHA:284169
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Facial capi... OMIM:274000
Takenouchi-Kosaki Syndrome
Low-set ears, Clinodactyly, Overlapping toe, Cryptorchidism, Sensorineural hearing impairment, Hy... OMIM:616737
Axial Mesodermal Dysplasia Spectrum
Abnormality of the ureter, Abnormality of the spleen, Congenital diaphragmatic hernia, Abnormal g... ORPHA:1834
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Abnormal autono... ORPHA:83601
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Shor... OMIM:253000
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal helix morphology, Hearing impairment, Cryptorchidism, Ventricular septal defect, Bicuspi... ORPHA:453499
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Aortic root aneurysm, Hearing impairment, Lateral ventricle dilatation, Abnormality... OMIM:607872
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Hearing impairment, Fi... ORPHA:84
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Cryptorchidism, Mitral valve prolapse, Arachnodac... ORPHA:536532
Diets-Jongmans Syndrome
Hearing impairment, Umbilical hernia, Long ear, Cryptorchidism, Heterotaxy, Ventricular septal de... OMIM:618846
3P25.3 Microdeletion Syndrome
Abnormality of the outer ear, Broad thumb, Overlapping toe, Ventricular septal defect, Sensorineu... ORPHA:435638
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Decreased fibular diameter, Ventricular septal defect, Short nec... OMIM:616897
Criss-Cross Heart
Abnormal thorax morphology, Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal... ORPHA:1461
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Hearing impairment, Cryptorchidism, Congenital diaphragmatic herni... ORPHA:280
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Cryptorchidism, High pa... ORPHA:1703
Cat Eye Syndrome
Low-set ears, Hearing impairment, Chorioretinal coloboma, Ventricular septal defect, Atrial septa... OMIM:115470
Myhre Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Clinodactyly, Hypoplastic iliac wing, En... OMIM:139210
Duane-Radial Ray Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Aplasia of metacarpal bones, Atrial ... OMIM:607323
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Urinary glycosami... OMIM:253220
Tarp Syndrome
Low-set ears, Clinodactyly, Neonatal death, Atrial septal defect, High palate, Premature rupture ... OMIM:311900
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Noonan Syndrome With Multiple Lentigines
Cryptorchidism, Abnormal mitral valve morphology, Mitral valve prolapse, Sensorineural hearing im... ORPHA:500
Maternal Phenylketonuria
Hypoplastic left heart, Hypoplastic helices, Clinodactyly, Abnormal heart morphology, Tetralogy o... ORPHA:2209
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Low-set ears, Delayed epiphyseal ossification, Narrow chest, Metaphyseal cupping, Dysplastic sacr... OMIM:613320
Kagami-Ogata Syndrome
Thoracic hypoplasia, Premature birth, Bell-shaped thorax, Large placenta, Polyhydramnios, Diastas... ORPHA:254519
Femoral-Facial Syndrome
Low-set ears, Toe syndactyly, Encephalocele, Cryptorchidism, Ventricular septal defect, Agenesis ... OMIM:134780
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Low-set ears, Hypoplastic anterior commissure, Hypoplasia of the pons, Cryptorchidism, Ventricula... OMIM:616975
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap... ORPHA:2635
Tarp Syndrome
Hearing impairment, Extramedullary hematopoiesis, Finger syndactyly, Clinodactyly, Abnormal antih... ORPHA:2886
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Rod-cone dystr... ORPHA:168549
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Hearing impairment, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, M... OMIM:612541
Van Esch-O'Driscoll Syndrome
Bifid uvula, Cerebellar atrophy, Clinodactyly of the 5th finger, Ventricular septal defect, Protr... OMIM:301030
Kaposi Sarcoma
Neoplasm of the skin, Lymphedema, Abnormality of the spleen, Abnormality of the liver, Venous ins... ORPHA:33276
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Giant platelets, Lateral ventricle dilatatio... OMIM:611209
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Peripheral demyelination, Hepatosplenomegaly, White forelock, Cryptorchidism,... OMIM:609136
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Multicystic kidney dysplasia,... ORPHA:991
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Elevated circulating thyroid-stimulating hormone concentration, Megacystis, ... ORPHA:209905
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Bifid uvula, Hearing impairment, Dysplastic pulmonary valve, Scoliosis, Cleft... OMIM:300958
Poland Syndrome
Abnormality of the outer ear, Acute leukemia, Small hand, Ureterocele, Finger syndactyly, Aplasia... ORPHA:2911
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Abnormal helix morphology, Toe syndactyly, Finger syndactyly, Broad... ORPHA:373
Koolen-De Vries Syndrome
Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial se... OMIM:610443
Bohring-Opitz Syndrome
Low-set ears, Supernumerary nipple, Overlapping toe, Bilateral cleft palate, Ventricular septal d... OMIM:605039
Fibrochondrogenesis 1
Thin ribs, Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad l... OMIM:228520
Perlman Syndrome
Low-set ears, High, narrow palate, Abnormal pancreas morphology, Capillary hemangioma, Hyperinsul... ORPHA:2849
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Low-set ears, Alopecia, Horseshoe kidney, Cryptorchidism, Inguinal hernia, Ventricular septal def... ORPHA:166035
Noonan Syndrome 8
Low-set ears, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Pleural effusion, Cryptor... OMIM:615355
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Broad long bones, Encephalocele, Cryptorchidism, Short neck, Hypoplastic ischia, Hy... ORPHA:1865
Familial Multiple Nevi Flammei
Arteriovenous malformation, Abnormal cranial nerve morphology, Venous insufficiency, Intracranial... ORPHA:624
Sifrim-Hitz-Weiss Syndrome
Low-set ears, Chiari malformation, Hearing impairment, Cryptorchidism, Ventricular septal defect,... OMIM:617159
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Large placenta, Diastasis r... ORPHA:254528
Trisomy 18
Chiari malformation, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, ... ORPHA:3380
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Low-set ears, Aplastic anemia, Ventricular septal defect, Short ne... OMIM:300514
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Hearing impairment,... OMIM:222600
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Sit... ORPHA:1908
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Periportal fibrosis, Frontotemporal hypertrichosis, Large fleshy ears, Abnormal hea... OMIM:263210
Cowden Syndrome 1
Hearing impairment, Lymphopenia, Ovarian cyst, High palate, Carcinoma, Thyroid adenoma, Goiter, H... OMIM:158350
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Cherry red spot of the macula, Aspiration pneumonia, Hepatosple... ORPHA:79255
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hearing impairment, Hypoplastic iliac w... OMIM:253200
Holoprosencephaly 14
Low-set ears, Alobar holoprosencephaly, Cerebellar atrophy, Cyclopia, Ventricular septal defect, ... OMIM:619895
Fryns Syndrome
Thin ribs, Low-set ears, Abnormal helix morphology, Joint contracture of the hand, Cryptorchidism... OMIM:229850
Hurler Syndrome
Abnormal vertebral morphology, Hearing impairment, Endocardial fibroelastosis, Generalized hirsut... ORPHA:93473
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Trichorhinophalangeal Syndrome, Type Ii
Low-set ears, Rib exostoses, Hearing impairment, Recurrent otitis media, Lumbar scoliosis, Bicusp... OMIM:150230
Microphthalmia, Syndromic 9
Low-set ears, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Neonata... OMIM:601186
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Autosomal Dominant Progressive External Ophthalmoplegia
Hearing impairment, Limb muscle weakness, Myopathy, Peripheral axonal neuropathy, Hypomimic face,... ORPHA:254892
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Hearing impairment, Carpal synostosis, Fibular aplasia,... ORPHA:90652
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Elevated circulating thyroid-stim... ORPHA:226313
Tetrasomy 15Q26
Low-set ears, Cupped ear, Horseshoe kidney, Kyphoscoliosis, Hydronephrosis, Arachnodactyly, Atria... OMIM:614846
Orofaciodigital Syndrome V
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Ankyloglossia, Ventricular septal d... OMIM:174300
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Fetal distress, Bell-shaped thor... OMIM:614857
Alagille Syndrome 1
Low-set ears, Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Macrotia, ... OMIM:118450
Femoral-Facial Syndrome
Low-set ears, Aplasia/Hypoplasia of the tibia, Cryptorchidism, Radioulnar synostosis, Sprengel an... ORPHA:1988
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Cerebellar atrophy, Sparse lateral eyebrow, Horseshoe kidney, Vesicoureteral reflux... OMIM:619103
Chromosome 13Q33-Q34 Deletion Syndrome
Hearing impairment, Overlapping toe, Encephalocele, Cryptorchidism, Agenesis of corpus callosum, ... OMIM:619148
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda... ORPHA:1106
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Elevated circulating parathyroid hormone level, Hearing impairment, Facial diplegi... OMIM:122860
Noonan Syndrome 2
Low-set ears, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low posterior hai... OMIM:605275
Microphthalmia, Syndromic 3
Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defect, Sensorineural hearing imp... OMIM:206900
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Increased anterioposterior diameter of thorax, Ventricular septal defect,... ORPHA:99125
Opitz Gbbb Syndrome
Low-set ears, Aortic root aneurysm, Hearing impairment, Ankyloglossia, Cryptorchidism, Congenital... ORPHA:2745
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Torticollis, Abnormal 3rd fing... OMIM:249670
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Low-set ears, Hypoplastic scapulae, Elevated circulating luteinizi... ORPHA:95699
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Low-set ears, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Fl... OMIM:300232
Stuve-Wiedemann Syndrome 1
Thin ribs, Low-set ears, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short ne... OMIM:601559
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal hair ... ORPHA:3082
Zttk Syndrome
Low-set ears, Small hand, Absent gallbladder, Ventricular septal defect, Breech presentation, Atr... OMIM:617140
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Supernumerary nipple, Recurrent otitis media, Overlapping toe, Low posterior hairli... OMIM:213980
Adams-Oliver Syndrome
Arteriovenous malformation, Finger syndactyly, Encephalocele, Congenital hepatic fibrosis, Cirrho... ORPHA:974
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Down Syndrome
Atlantoaxial dislocation, Type II diabetes mellitus, Protruding tongue, Acute megakaryocytic leuk... ORPHA:870
Cowden Syndrome 5
Thyroid adenoma, Colonic diverticula, Hearing impairment, Subcutaneous lipoma, Goiter, Meningioma... OMIM:615108
Cowden Syndrome 6
Hearing impairment, Ovarian cyst, High palate, Thyroid adenoma, Goiter, Hypothyroidism, Hyperthyr... OMIM:615109
Aspergillosis
Pneumonia, Abnormality of the vertebral column, Hepatitis, Pleural effusion, Abnormal long bone m... ORPHA:1163
Maffucci Syndrome
Pituitary adenoma, Multiple enchondromatosis, Goiter, Neoplasm of the parathyroid gland, Breast c... ORPHA:163634
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Highly arched eyebrow, Hematochezia, Dilation of Virchow-R... ORPHA:261311
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Iris coloboma, Abnormal lung lobation, Aplasia/Hypop... ORPHA:3301
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Ab... ORPHA:2306
White Forelock With Malformations
Finger syndactyly, Low-set, posteriorly rotated ears, Clinodactyly of the 5th finger, White forel... ORPHA:2475
Diamond-Blackfan Anemia 7
Hearing impairment, Atresia of the external auditory canal, Recurrent otitis media, Esophagitis, ... OMIM:612562
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Bell-shaped thorax, Encephalocele, Cryptorchidism, Anal atresia, Flat acetabular roo... OMIM:616300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Short tibia, Absent gallbladder, Neonatal death, Low posterior hairline, Short neck... OMIM:617925
Noonan Syndrome 10
Low-set ears, Pectus carinatum, Sparse eyebrow, Hypertrophic cardiomyopathy, Increased nuchal tra... OMIM:616564
Marfanoid Habitus With Situs Inversus
Pectus carinatum, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Arachnodac... OMIM:609008
Jacobsen Syndrome
Low-set ears, Chorioretinal coloboma, Cryptorchidism, Ventricular septal defect, Short neck, Atri... OMIM:147791
Hyperparathyroidism, Transient Neonatal
Thin ribs, Low-set ears, Fractured rib, Ovarian cyst, Patent ductus arteriosus, Gastroesophageal ... OMIM:618188
Alg9-Cdg
Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Ventricular septal defect, Low po... ORPHA:79328
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Low-set ears, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of verteb... ORPHA:457395
CantĂș Syndrome
Finger syndactyly, Low posterior hairline, Generalized hirsutism, Short neck, Short hallux, Paten... ORPHA:1517
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Toe syndactyly, Atresia of the external auditory canal, Velopharyngeal insufficienc... OMIM:154400
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Sensorineural hearing i... OMIM:203800
Lymphatic Malformation 6
Hearing impairment, Atrial septal defect, Periorbital edema, Abnormal pinna morphology, Gastroeso... OMIM:616843
3M Syndrome
Thin ribs, Short neck, Hypoplastic ischia, Hypospadias, Increased vertebral height, Horizontal ri... ORPHA:2616
Distal Deletion 12Q
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Overlapping toe, Shor... ORPHA:96149
Proteus Syndrome
Low-set ears, Rib exostoses, Pulmonary cyst, Arteriovenous malformation, Finger syndactyly, Decre... ORPHA:744
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Abdominal aortic aneurysm, Intervertebral disk degeneration, Congenital ... OMIM:619656
Histiocytosis-Lymphadenopathy Plus Syndrome
Hearing impairment, Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral... OMIM:602782
Recombinant 8 Syndrome
Low-set ears, Abnormality of the outer ear, Hearing impairment, Abnormal sternum morphology, Camp... ORPHA:96167
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Low-set ears, High, narrow palate, Gastroesophageal reflux, Cerebellar v... OMIM:616920
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Low-set, posteriorly rotated ears, Cryptorchidism, Ventricular septal def... ORPHA:2772
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Polysplenia, Tetralogy of Fallot, ... ORPHA:1335
Jeune Syndrome
Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Short thorax, Abnormal... ORPHA:474
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, Chylothorax, Lymphedema, Abnormal heart morphology, Facial capillary ... ORPHA:137667
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Waardenburg Syndrome, Type 2E
Hypopigmentation of the fundus, Premature graying of hair, Ocular albinism, Aplasia of the semici... OMIM:611584
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue atrophy, Distal amyotrophy, De... OMIM:601596
8P Inverted Duplication/Deletion Syndrome
Frontal balding, Cryptorchidism, Agenesis of corpus callosum, Short neck, Dextrocardia, Hip dislo... ORPHA:96092
Enlarged Parietal Foramina
Broad thumb, Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral ve... ORPHA:60015
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Coarse hair, Hearing impairment, Umbilical hernia, ... OMIM:252900
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Skeletal muscle atrophy, Abnormal muscle fiber morphology, Sparse body hair, Ab... ORPHA:3068
Campomelic Dysplasia
Thin ribs, Low-set ears, Hypoplastic scapulae, Delayed epiphyseal ossification, Hypoplastic cervi... OMIM:114290
Kleefstra Syndrome
Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Agenesis of ... ORPHA:261494
Autosomal Dominant Spastic Paraplegia Type 10
Hearing impairment, Lower limb muscle weakness, Leg muscle stiffness, Distal lower limb amyotroph... ORPHA:100991
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Cholestasis, Bell-shaped thorax, Genu valgum, Ventricular septal defect, ... OMIM:615630
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic valve, Short digit, Clinoda... ORPHA:228190
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Alopecia of scalp, Abnormal aortic valve m... OMIM:615280
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Eosinophilic ... OMIM:614816
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
Townes-Brocks Syndrome
Abnormal vertebral morphology, Toe syndactyly, Chiari malformation, Hearing impairment, Chorioret... ORPHA:857
Achondrogenesis Type 1B
Narrow chest, Short thorax, Thickened nuchal skin fold, Umbilical hernia, Short neck, Short foot,... ORPHA:93298
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Schwartz-Jampel Syndrome
Abnormality of the ureter, Genu valgum, Myopathy, Hip contracture, Generalized hirsutism, Bowing ... ORPHA:800
Lessel-Kreienkamp Syndrome
Hypoplastic helices, Gastroesophageal reflux, Hearing impairment, Clinodactyly of the 5th finger,... OMIM:619149
Cardiofaciocutaneous Syndrome 1
Low-set ears, Hearing impairment, Absent eyelashes, Low posterior hairline, Short neck, Periphera... OMIM:115150
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature c... OMIM:300845
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Cardiofaciocutaneous Syndrome
Genu valgum, Cryptorchidism, Low posterior hairline, Short neck, Atrial septal defect, Brittle ha... ORPHA:1340
Aicardi Syndrome
Dilated third ventricle, Chiari malformation, Lateral ventricle dilatation, Metastatic angiosarco... OMIM:304050
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Hearing impairment, Macrotia, Hypertrophic cardiomyopathy, Low-set, posteriorl... ORPHA:2701
Williams Syndrome
Chiari malformation, Genu valgum, Type II diabetes mellitus, Cryptorchidism, Mitral valve prolaps... ORPHA:904
Mccune-Albright Syndrome
Renal phosphate wasting, Hearing impairment, Increased circulating prolactin concentration, Incre... ORPHA:562
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... ORPHA:99094
Sarcosinemia
Optic atrophy, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Infantile sensorineural hea... ORPHA:3129
Bilateral Polymicrogyria
Low-set ears, Central hypothyroidism, Cerebellar atrophy, Pseudobulbar paralysis, Facial diplegia... ORPHA:268940
1Q21.1 Microdeletion Syndrome
Toe syndactyly, Broad thumb, Ankyloglossia, Cryptorchidism, Sensorineural hearing impairment, Age... ORPHA:250989
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Situs inversus t... OMIM:615067
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Highly arched eyebrow, Hearing impairment, Tetralogy of Fallot, Vesicouret... ORPHA:96147
Foix-Alajouanine Syndrome
Cervical myelopathy, Myelopathy, Urinary retention, Functional abnormality of the bladder, Lower ... ORPHA:79093
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sensorin... ORPHA:2072
Lenz-Majewski Hyperostotic Dwarfism
Prominent scalp veins, Cutaneous finger syndactyly, Cryptorchidism, Humeroradial synostosis, Sens... OMIM:151050
Cornelia De Lange Syndrome 1
Low-set ears, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Sensori... OMIM:122470
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased interverteb... OMIM:618961
Juvenile Polyposis Syndrome
Low-set ears, Arteriovenous malformation, Clubbing of fingers, Stomach cancer, Juvenile gastroint... ORPHA:2929
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial... OMIM:263520
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Thoracic scoliosis,... OMIM:603387
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Lobar holo... OMIM:614701
Costello Syndrome
Low-set ears, Enlarged cerebellum, Barrel-shaped chest, Ventricular septal defect, Mitral valve p... OMIM:218040
Frontometaphyseal Dysplasia 2
Low-set ears, Broad thumb, Decreased muscle mass, Cryptorchidism, Hip contracture, Sensorineural ... OMIM:617137
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Sensorineural hearing impairment, Absent e... ORPHA:544488
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Broad thumb, Hypoplastic iliac win... OMIM:609945
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Hearing impairment, Clinodact... OMIM:268310
Thyroid Dyshormonogenesis 1
Macroglossia, Hypothyroidism, Goiter, Umbilical hernia OMIM:274400
Esophageal Atresia
Abnormal vertebral morphology, Hearing impairment, Clinodactyly, Esophagitis, Abnormal gastrointe... ORPHA:1199
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Broad phalanges of the hand, Ventricular septal defect, High palate, Short... OMIM:608328
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Ventricular septal defect, Sens... ORPHA:500095
Peters-Plus Syndrome
Low-set ears, Facial hypertrichosis, Square pelvis bone, Hearing impairment, Cryptorchidism, Vent... OMIM:261540
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Thoracic hypoplasia, Hearing impairment, Short femoral nec... OMIM:618363
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... ORPHA:959
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... OMIM:208540
Arboleda-Tham Syndrome
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... OMIM:616268
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Cupped ear, Lateral ventricle dilatation, Sandal gap, Umbilical hernia, Joint c... OMIM:618914
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Otitis media, Heterotaxy, Chronic bronc... OMIM:613807
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Short distal phalanx of finger, Short thorax, Hearing impairment, Co... ORPHA:2484
Severe Congenital Nemaline Myopathy
Thin ribs, Low-set ears, Breech presentation, Micropenis, Abnormality of the diaphragm, Dysphagia... ORPHA:171430
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Hearing impairment, Melanoma, Adenoma sebaceu... ORPHA:201
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Exostosis of the external auditory canal, Cryptorchidism, Congenital diaphragmatic ... OMIM:265000
Menkes Disease
Narrow chest, Gastrointestinal hemorrhage, Umbilical hernia, Arterial stenosis, Tarsal synostosis... ORPHA:565
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Sensorineural hearing impairment, Aplasia/Hypopl... ORPHA:3320
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Iris coloboma, Hearing impairment, 11 pairs of ribs, Cryptorchidis... ORPHA:77298
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Cleft palate, H... ORPHA:1797
Thyroid Hypoplasia
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Cat-Eye Syndrome
Hearing impairment, Chorioretinal coloboma, Hydronephrosis, Abnormal rib morphology, Anal atresia... ORPHA:195
Kapur-Toriello Syndrome
Low-set ears, Iris coloboma, Atresia of the external auditory canal, Retinal coloboma, Tetralogy ... ORPHA:2328
Coffin-Siris Syndrome 1
Low-set ears, Facial hypertrichosis, Dry hair, Hearing impairment, Cryptorchidism, Congenital dia... OMIM:135900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Broad thumb, Chiari malformation, Cryptorchidism, Ventricular septal defec... ORPHA:353281
Monosomy 9Q22.3
Low-set ears, Chiari malformation, Abnormality of the vertebral column, Umbilical hernia, Retinop... ORPHA:77301
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Epiph... OMIM:274300
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste... OMIM:614300
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media, Heterotaxy OMIM:618781
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac... OMIM:271530
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiomyopathy, Abnormal hear... OMIM:230500
Atelosteogenesis Type I
Platyspondyly, Low-set ears, Narrow chest, Pulmonary hypoplasia, Short femur, Thoracic hypoplasia... ORPHA:1190
Hypothyroidism, Congenital, Nongoitrous, 2