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Gene: Dchs1 MGI:2685011

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dachsous cadherin related 1
Synonyms:
C130033F22Rik,  3110041P15Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dchs1 mutations

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

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

The table below shows human diseases associated to Dchs1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Van Maldergem Syndrome 1
Clinodactyly, Atresia of the external auditory canal, Cutaneous finger syndactyly, Micrognathia, ... OMIM:601390
Cerebrofacioarticular Syndrome
Osteopenia, Renal hypoplasia, Anal stenosis, Caudal appendage, Tracheomalacia, Anteriorly placed ... ORPHA:314679

The table below shows human diseases predicted to be associated to Dchs1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Dysosteosclerosis
Absent paranasal sinuses, Hearing impairment, Sclerosis of hand bone, Micrognathia, Increased int... OMIM:224300
Tarp Syndrome
Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Atrial septal defect, High palate, Tetr... OMIM:311900
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Cardiac Valvular Dysplasia, X-Linked
Short chordae tendineae of the mitral valve, Bicuspid aortic valve, Short chordae tendineae of th... OMIM:314400
Bent Bone Dysplasia Syndrome 2
Thin ribs, Short tibia, Hypoplastic iliac wing, Short neck, Atrial septal defect, Osteopenia, Sho... OMIM:620076
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia, Abnormal antihelix morphology,... ORPHA:2886
Odontochondrodysplasia 1
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... OMIM:184260
Mass Syndrome
Mitral valve prolapse OMIM:604308
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Scarf Syndrome
Pectus carinatum, Abnormal form of the vertebral bodies, Perineal hypospadias, Umbilical hernia, ... ORPHA:3134
Cornelia De Lange Syndrome 1
Low-set ears, Micrognathia, Ventricular septal defect, Sensorineural hearing impairment, Short ne... OMIM:122470
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Mosaic Variegated Aneuploidy Syndrome 1
Low-set ears, Multicystic kidney dysplasia, Postnatal growth retardation, Intrauterine growth ret... OMIM:257300
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Myelomeningocele, Missing ribs, S... ORPHA:66637
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Joint stiffness, Abnormal hip bone morphology, Vesicoureteral reflux, Microg... ORPHA:1166
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse ORPHA:228410
Axial Mesodermal Dysplasia Spectrum
Abnormality of the ureter, Micrognathia, Abnormal gastrointestinal tract morphology, Renal hypopl... ORPHA:1834
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Atrial septal defect, Mitral stenosis, Mitral atresia ORPHA:2248
Bardet-Biedl Syndrome 16
Bronchiolitis, Renal agenesis, Hearing impairment, Recurrent otitis media, Stage 5 chronic kidney... OMIM:615993
Multiple Synostoses Syndrome 1
Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Proximal... OMIM:186500
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse OMIM:616166
Prune Belly Syndrome
Multicystic kidney dysplasia, Abnormality of the ureter, Ventricular septal defect, Aplasia/Hypop... ORPHA:2970
Scarf Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus carinatum, Low-set ears, Abnormal f... OMIM:312830
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Orofaciodigital Syndrome Type 3
Low-set ears, Bifid uvula, Postaxial foot polydactyly, Lobulated tongue, Hamartoma of tongue, Sta... ORPHA:2752
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse OMIM:173900
Marshall-Smith Syndrome
Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ... OMIM:602535
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Renal hypoplasia, Microretrognathia, Hydranencephaly, Ureteral agenesis, Neonatal d... OMIM:236500
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Low-set ears, Micrognathia, Renal hypoplasia/aplasia, Radioulnar... ORPHA:1988
Ulbright-Hodes Syndrome
Thin ribs, Low-set ears, Postnatal growth retardation, Fibular aplasia, Micrognathia, Humeroradia... ORPHA:3404
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Short neck, Short greater sciatic notch, Flat aceta... OMIM:256050
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Growth delay, Clinodactyly, Renal agenesis, Branchial cyst, I... OMIM:615583
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Intrauterine growth retardation, Trident pelvis, Joint... OMIM:614815
Donnai-Barrow Syndrome
Low-set ears, Hearing impairment, Umbilical hernia, Intestinal malrotation, Ventricular septal de... OMIM:222448
Orofaciodigital Syndrome Iii
Low-set ears, Bifid uvula, Postaxial foot polydactyly, Tongue nodules, Short sternum, Postaxial h... OMIM:258850
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse ORPHA:3238
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Peroxisome Biogenesis Disorder 6A (Zellweger)
Low-set ears, Renal cyst, Epiphyseal stippling, Neonatal death OMIM:614870
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Mesomelia, Abnormal epiphysis morphology, Camptodactyly of finger, Abnormal lung lobation, Low-se... ORPHA:2631
Schinzel-Giedion Midface Retraction Syndrome
Low-set ears, Aplasia/Hypoplasia of the pubic bone, Postnatal growth retardation, Short neck, Hep... OMIM:269150
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse OMIM:225320
Diaphanospondylodysostosis
Low-set ears, Nephrogenic rest, Micrognathia, Bell-shaped thorax, Decreased skull ossification, S... OMIM:608022
Heart Defects-Limb Shortening Syndrome
Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Central Core Disease
Mitral valve prolapse ORPHA:597
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Low-set ears, Pulmonary artery atresia, Postnatal growth retardation, Intrauterine growth retarda... OMIM:620113
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse OMIM:606631
Poland Syndrome
Abnormality of the outer ear, Small hand, Finger syndactyly, Ureterocele, Aplasia/Hypoplasia of t... ORPHA:2911
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Decreased skull ossifi... OMIM:616897
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Abnormal heart morphology, Stage 5 chronic kidney disease, Death in in... OMIM:613390
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Vesicoureteral reflux, Ren... OMIM:617271
Atelosteogenesis Type I
Platyspondyly, Low-set ears, Narrow chest, Rhizomelia, Pulmonary hypoplasia, Thoracic hypoplasia,... ORPHA:1190
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... OMIM:314390
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... OMIM:612561
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Polydactyly OMIM:615987
Coffin-Siris Syndrome 1
Low-set ears, Hearing impairment, Postnatal growth retardation, Aplasia/Hypoplasia of the patella... OMIM:135900
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Low-set ears, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof,... OMIM:151210
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Hearing impairment, Ventricular septal defect, 2-3... OMIM:312870
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Unossified sacrum, Micromelia, Hearing impairment, Absent vertebr... ORPHA:93296
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Dilatation of the renal pelvis, Micrognathia, Sensorineu... ORPHA:314588
Turner Syndrome Due To Structural X Chromosome Anomalies
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Po... ORPHA:99413
Turner Syndrome
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Po... ORPHA:881
Mosaic Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Po... ORPHA:99228
Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Po... ORPHA:99226
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse OMIM:609008
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Aplasia/Hypoplasia of the lungs, Coarse metaphyseal trabeculariza... ORPHA:2635
Momo Syndrome
Femoral bowing, Short sternum, Short neck, Underfolded helix, Abnormal bone ossification, Short s... ORPHA:2563
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Narrow chest, Rhizomelia, Hy... OMIM:617661
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Thanatophoric Dysplasia
Platyspondyly, Abnormal ilium morphology, Narrow chest, Low-set ears, Disproportionate short-limb... ORPHA:2655
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Intestinal malrotation, Th... OMIM:617866
Czeizel-Losonci Syndrome
Micrognathia, 2-3 finger syndactyly, Thoracolumbar scoliosis, Dextrocardia, High palate, Ureteral... ORPHA:2437
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse ORPHA:230839
Turnpenny-Fry Syndrome
Low-set ears, Small hand, Clinodactyly, Overlapping toe, Mitral valve prolapse, Atrial septal def... OMIM:618371
Vacterl/Vater Association
Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Aplasia/Hypoplasia of t... ORPHA:887
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... OMIM:212093
Trisomy 13
Low-set ears, Abnormal helix morphology, Abnormality of the ureter, Abnormal antihelix morphology... ORPHA:3378
Rhyns Syndrome
Osteopenia, Hypoplastic ilia, Multicystic kidney dysplasia, Nephronophthisis, Hearing impairment,... ORPHA:140976
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse OMIM:247410
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ve... OMIM:618845
Meckel Syndrome, Type 8
Low-set ears, Narrow chest, Occipital encephalocele, Hyperechogenic kidneys, Encephalocele, Polyd... OMIM:613885
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Marden-Walker Syndrome
Low-set ears, Joint contracture of the hand, Postnatal growth retardation, Micrognathia, Arachnod... OMIM:248700
Thanatophoric Dysplasia, Type I
Neonatal death, Bowing of the long bones, Short neck, Short greater sciatic notch, Small abnormal... OMIM:187600
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Renal hypoplasia, Absent thumb, Abnormality of the vertebral colum... OMIM:276950
Short-Rib Thoracic Dysplasia 12
Low-set ears, Hypoplastic scapulae, Ventricular septal defect, Neonatal death, Short neck, Short ... OMIM:269860
Cerebrocostomandibular Syndrome
Posterior rib gap, Multicystic kidney dysplasia, Hydranencephaly, Conductive hearing impairment, ... ORPHA:1393
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Abnormal lung lobation, Abnormal heart morphology, Large fleshy ears, Micrognathia,... OMIM:263210
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Distal shorte... OMIM:146510
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse OMIM:615539
3C Syndrome
Aortic valve stenosis, Low-set ears, Finger syndactyly, Postnatal growth retardation, Micrognathi... ORPHA:7
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Low-set, ... ORPHA:1486
Cerebrocostomandibular Syndrome
Low-set ears, Postnatal growth retardation, Cleft soft palate, Micrognathia, Bell-shaped thorax, ... OMIM:117650
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Joint hypermobili... ORPHA:3033
Momo Syndrome
Short sternum, Short neck, Underfolded helix, High palate OMIM:157980
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Platyspondyly, Severe short stature, Lower-limb metaphyseal irregularity, Po... OMIM:618728
Campomelia, Cumming Type
Clubbing of toes, Multicystic kidney dysplasia, Micromelia, Abnormal thorax morphology, Death in ... ORPHA:1318
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Microglossia, Micromelia, Renal dysplasia, Occipital ... OMIM:241800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Bowing of the long bones, High palate, Flat acetabular roof, Hypospadias, P... OMIM:614091
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Joint hypermobility, Hydronephrosis, Ven... OMIM:620511
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Multicystic kidney dysplasia, Gastroesophageal reflux, Conductive ... ORPHA:261197
Fragile X Syndrome
Mitral valve prolapse ORPHA:908
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Mitral valve prolapse ORPHA:324604
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Limitation of joint mobility, Broad long bones, Micrognathia, Encephalocele, Short ... ORPHA:1865
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Cone-shaped epiphysis, Thoracic hypop... OMIM:613091
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defe... OMIM:618316
Mosaic Trisomy 9
Low-set ears, Limitation of joint mobility, Micrognathia, Endocardial fibroelastosis, Ventricular... ORPHA:99776
Ectopia Lentis 1, Isolated, Autosomal Dominant
Mitral valve prolapse OMIM:129600
Marden-Walker Syndrome
Low-set ears, Multicystic kidney dysplasia, Micrognathia, Ventricular septal defect, Arachnodacty... ORPHA:2461
Von Willebrand Disease, Type 1
Aortic valve stenosis, Mitral valve prolapse OMIM:193400
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Hearing impairment, Micrognathia, Single ventricle, 2-5 ... OMIM:308050
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Anencephaly, Postaxial polydact... OMIM:614175
Braddock-Carey Syndrome 1
Small hand, Multicystic kidney dysplasia, Growth delay, Clinodactyly, Anteriorly placed anus, Mac... OMIM:619980
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Mitral valve prolapse, Pericarditis ORPHA:2848
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Hearing abnormality, Protruding ear, Radioulnar synostosis, Pectus ... ORPHA:3270
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology ORPHA:1277
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Pulmonary hypoplasia, Aplasia/Hypoplasia of the sacrum, R... ORPHA:3027
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Greenberg Dysplasia
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... OMIM:215140
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona... ORPHA:168549
Achondrogenesis, Type Ia
Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morp... OMIM:200600
Ehlers-Danlos Syndrome, Classic-Like, 1
Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Frank-Ter Haar Syndrome
Mitral valve prolapse ORPHA:137834
Hajdu-Cheney Syndrome
Low-set ears, Genu valgum, Fibular bowing, Micrognathia, Ventricular septal defect, Crowded carpa... OMIM:102500
Trisomy 17P
Aortic valve stenosis, Low-set ears, Hearing impairment, Micrognathia, Short neck, High palate, P... ORPHA:261290
Joubert Syndrome 7
Nephronophthisis, Stage 5 chronic kidney disease, Genu valgum, Encephalocele, Postaxial polydacty... OMIM:611560
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Bell-shaped thorax, Encephalocele, Anal atresia, Flat acetabular roof, Macrotia, Ham... OMIM:616300
Acrorenal-Mandibular Syndrome
Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi... OMIM:200980
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Abnormal lu... ORPHA:3301
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Hearing impairment, Carpal synostosis, Fibular aplasia,... ORPHA:90652
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Renal hypop... ORPHA:958
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow ... ORPHA:85166
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Hearing impairment, Vertebral segmentation defect, Short neck, Abnormal rib morph... ORPHA:2578
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse ORPHA:1563
Achondroplasia
Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Thor... OMIM:100800
Sandhoff Disease, Infantile Form
Mitral valve prolapse ORPHA:309155
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Hypospadias, Severe short stature, Toe syndactyly, Short thumb, An... ORPHA:2319
Intellectual Developmental Disorder, X-Linked 112
Dilatation of the renal pelvis, Bicuspid aortic valve, Hypospadias, Ectopic kidney, Gastroesophag... OMIM:301111
Harrod Syndrome
Hypospadias, Abnormal pelvic girdle bone morphology, Multicystic kidney dysplasia, Abnormal shoul... ORPHA:2115
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves... OMIM:113650
Genitopalatocardiac Syndrome
Low-set ears, Micrognathia, Ventricular septal defect, Renal cyst, Transposition of the great art... OMIM:231060
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Stillbirth, Internally rotated shoulders, Elbow flexion contracture, M... OMIM:617468
Trisomy 20P
Finger syndactyly, Abnormality of the ureter, Micrognathia, Abnormal antihelix morphology, Short ... ORPHA:261318
Say Syndrome
Short distal phalanx of finger, Macrotia, Micrognathia, Ulnar deviation of the 3rd finger, Proxim... OMIM:181180
Bardet-Biedl Syndrome 4
Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, Syndactyly OMIM:615982
Cap Myopathy
Mitral valve prolapse ORPHA:171881
Genitopalatocardiac Syndrome
Low-set ears, Hypospadias, Multicystic kidney dysplasia, Intrauterine growth retardation, Microgn... ORPHA:2075
Radio-Renal Syndrome
High, narrow palate, Severe short stature, Multicystic kidney dysplasia, Chylothorax, Abnormal fo... ORPHA:3015
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Cone-shaped epiphyses of the ph... OMIM:208500
Recombinant Chromosome 8 Syndrome
Low-set ears, Joint contracture of the hand, Growth delay, Hearing impairment, Tetralogy of Fallo... OMIM:179613
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Multiple renal cysts, Back pain ORPHA:2924
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Mosaic Trisomy 1
Low-set ears, Toe syndactyly, Broad 2nd toe, Ventricular septal defect, Arachnodactyly, 2-3 finge... ORPHA:1692
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormality of the ureter, Short neck, Hypospadias, Low-set, posteriorly rotat... ORPHA:2311
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Aplasia/hypoplasia of... ORPHA:2839
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia ORPHA:3032
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Intrauterine growth retardation, Micrognathia, Tibial bowi... ORPHA:3035
Three M Syndrome 1
Short 5th finger, Growth delay, Slender long bone, Postnatal growth retardation, Intrauterine gro... OMIM:273750
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Postnatal growth retardation, Intrauterine growth retardation, Left ventricul... OMIM:616733
Meier-Gorlin Syndrome 7
Low-set ears, Hearing impairment, Aplasia/Hypoplasia of the patella, Urethral stricture, Ventricu... OMIM:617063
Congenital Contractural Arachnodactyly
Mitral valve prolapse ORPHA:115
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Low-set ears, Overlapping toe, Absent fifth metatarsal, Atrial sep... OMIM:620662
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Back pain OMIM:174050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Nephrocalcinosis, Restrictive cardiomyopathy, Hydrourete... OMIM:615398
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Ky... OMIM:277300
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Short neck, Dextrocardia, Myelomeningocele, Vertebral segmentation defect, Mi... OMIM:613686
Mosaic Trisomy 16
Short forearm, Clinodactyly, Hearing impairment, Large placenta, Ventricular septal defect, Atria... ORPHA:1708
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Multicystic kidney dysplasia, Fibular aplasia, Micro... OMIM:300373
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Hearing impairment, Recurrent o... OMIM:253220
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Clinodactyly, Postnatal growth retardation, Micrognat... ORPHA:96148
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Low-set ears, Short finger, Hypoplastic heart, Intrauterine growth retardation, Microg... OMIM:312150
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Low-set ears, Postnatal growth retardation, Bell-shaped thorax, ... OMIM:613320
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial septal defect, Polycystic kid... OMIM:263520
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Hepatic cysts, Ventricular septal defect, Renal cyst, Duplication of p... OMIM:263630
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Esophagitis, Amelia, Perineal fistula, Renal hypoplasia/aplasia, Ab... ORPHA:2538
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Kaposiform Lymphangiomatosis
Abnormal lung morphology, Fractures of the long bones, Abnormal form of the vertebral bodies, Ost... ORPHA:464329
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syn... ORPHA:1507
Cardiac Diverticulum
Aortic valve stenosis, Congenital defect of the pericardium, Abnormal heart morphology, Tetralogy... ORPHA:1686
Geleophysic Dysplasia 2
Aortic valve stenosis, Tricuspid stenosis, Mitral stenosis, Mitral valve prolapse OMIM:614185
Fryns Syndrome
Thin ribs, Low-set ears, Joint contracture of the hand, Abnormal helix morphology, Ventricular se... OMIM:229850
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Right atrial enlargement, Mitral valve prolapse ORPHA:555877
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, ... OMIM:611209
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Renal agenesis, Abnormal sternum morphology, Abnormal tibia mor... ORPHA:1335
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Postnatal growth retardation, Micrognathia, Abnormal bone ossification, Dysphagia, Sho... ORPHA:73230
Chromosome 6Q24-Q25 Deletion Syndrome
Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmonary valve, Atrial septal defe... OMIM:612863
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Short tibia, Micrognathia, Neonatal death, Short neck, Anal atresia, Abnormal pinna... OMIM:617925
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Epiphyseal stippling, Polycystic kidney dysplasia, Wide anterior fontanel OMIM:614859
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Abnormal heart morphology, Postnatal growth retardation, Vertebral se... ORPHA:531151
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Low-set ears, Short finger, Hypoplastic heart, Intrauterine growth retardation, Microg... OMIM:253290
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Limitation of joint mobility, Finger syndactyly, Hearing impairment, Micrognathia, ... ORPHA:2990
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly... ORPHA:2091
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Anisospondyly, Occipital encephalocele, Thoracic hypoplasia, Micromelia, Di... OMIM:224410
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Abnormal vertebral morphology, Conductive hearing impairment, Abnormality of th... OMIM:239800
Trisomy X
Multicystic kidney dysplasia, Joint hypermobility, Ventricular septal defect, Renal hypoplasia/ap... ORPHA:3375
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Bowing of the long bon... OMIM:611134
Femoral-Facial Syndrome
Low-set ears, Toe syndactyly, Micrognathia, Humeroradial synostosis, Encephalocele, Limited elbow... OMIM:134780
Gorham-Stout Disease
Osteopenia, Hearing impairment, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnorm... ORPHA:73
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Low-set ears, Hypoplastic cervi... OMIM:114290
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Atlantoaxial dislocation, Postnatal growth retardation, Dysplasia of the femoral he... ORPHA:536467
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif... OMIM:215045
Meier-Gorlin Syndrome 1
Thin ribs, Low-set ears, Joint contracture of the hand, Small hand, Hearing impairment, Atresia o... OMIM:224690
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Hamartoma of ton... OMIM:616546
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Abnormal vertebral morphology, Renal hypoplasia, Hearing impairment, Intrauterine growth retardat... OMIM:616817
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Truncus arterio... OMIM:620294
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Postnatal growth retar... ORPHA:79345
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Neonatal death, Ventricular septal defect, Optic disc pallor, Ectopic kidney, C... OMIM:613730
Focal Dermal Hypoplasia
Low-set ears, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Hearing impairment... ORPHA:2092
15Q24 Microdeletion Syndrome
Hypospadias, Small hand, Abnormality of the outer ear, Clinodactyly, Microphallus, Hearing impair... ORPHA:94065
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Micrognathia, Death in childh... OMIM:210710
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Occipital encephalocele, Twelfth rib hypoplasia, Bell-shaped thorax, Micrognathia, ... ORPHA:397715
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Pseudoxanthoma Elasticum
Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse OMIM:264800
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture... OMIM:616531
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Hip dislocation, Villous atrophy, Short neck, Atrial septal defect, Pericardial eff... OMIM:608776
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Abnormality of the ureter,... ORPHA:798
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv... OMIM:616749
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Mitral valve prolapse OMIM:258450
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of th... OMIM:603194
Atelosteogenesis Type Ii
Low-set ears, Hypoplastic cervical vertebrae, Genu valgum, Micrognathia, Bell-shaped thorax, Bila... ORPHA:56304
Costello Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Ventricular septal defect ORPHA:3071
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Double outlet right vent... ORPHA:371428
Raine Syndrome
Low-set ears, Long hallux, Micrognathia, Protruding tongue, Neonatal death, Bowing of the long bo... OMIM:259775
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Bilateral radial aplasia, Low-set ears, Absent thumb, Renal agenes... OMIM:300514
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Encephalocele, Polydactyly OMIM:614465
Cohen Syndrome
Mitral valve prolapse OMIM:216550
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotation, Optic ... OMIM:120330
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... OMIM:102510
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Restrictive cardiomyopathy, Hearing impairment, Micrognathia, Abnormal gastrointest... ORPHA:369837
Kleefstra Syndrome
Limitation of joint mobility, Hearing impairment, Ventricular septal defect, Bicuspid aortic valv... ORPHA:261494
Hajdu-Cheney Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Micrognathia, Decreased skull ossificati... ORPHA:955
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Multicystic kidney dysplasia, Toe syndactyly, Microre... ORPHA:261344
Arthrogryposis, Distal, Type 12
Mitral valve prolapse OMIM:620545
Jacobsen Syndrome
Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Multicystic kidney dysplasia, Toe synd... ORPHA:2308
Ehlers-Danlos Syndrome, Classic Type, 1
Mitral valve prolapse OMIM:130000
Microcephaly-Micromelia Syndrome
Low-set ears, Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine gro... OMIM:251230
Meckel Syndrome 14
Low-set ears, Pulmonary hypoplasia, Postaxial foot polydactyly, Microretrognathia, Occipital ence... OMIM:619879
Lethal Congenital Contracture Syndrome 1
Micrognathia, Abnormal thorax morphology, Neonatal death, Widening of cervical spinal canal, Arth... OMIM:253310
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, L... OMIM:616564
Bor Syndrome
Multicystic kidney dysplasia, Hearing impairment, Atresia of the external auditory canal, Branchi... ORPHA:107
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Growth delay, Hearing impairment, 11 pairs of ribs, Ventricular se... ORPHA:77298
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Mitral valve prolapse OMIM:236200
Genitopatellar Syndrome
Low-set ears, Hypoplastic ilia, Multicystic kidney dysplasia, Gastroesophageal reflux, Hearing im... ORPHA:85201
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Fibular bowing... ORPHA:1427
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Atrial septal defect, Mitral valve prolapse, Ventricular septal defect OMIM:121050
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Exostosis of the external auditory canal, Micrognathia, Dysplastic patella, Patella... OMIM:265000
Lethal Congenital Contracture Syndrome 10
Low-set ears, Narrow palate, Narrow chest, Stiff neck, Broad ribs, Overlapping fingers, Femoral b... OMIM:617022
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Optic disc pall... ORPHA:464306
Fryns Syndrome
Multicystic kidney dysplasia, Micrognathia, Short neck, Anal atresia, High palate, Hypospadias, D... ORPHA:2059
Noonan Syndrome 13
Atrial septal defect, Mitral valve prolapse OMIM:619087
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia OMIM:615228
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Contractures of the large joints, Preaxial hand polydactyly, Postnatal growth retard... ORPHA:96179
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Intrauterine growth retardation, Neonatal death, Lacticaciduria, Elevated urinary... OMIM:619003
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Elbow flexion contracture, Intrauterine growth retardation, Distal arthrogrypo... OMIM:617194
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary valve morphology, ... ORPHA:500
Meckel Syndrome 13
Flexion contracture, Micrognathia, Polycystic kidney dysplasia, Occipital encephalocele OMIM:617562
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hearing impairment, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis... OMIM:614922
2Q37 Microdeletion Syndrome
Small hand, Toe syndactyly, Multicystic kidney dysplasia, Finger syndactyly, Tracheomalacia, Cond... ORPHA:1001
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Low-set ears, Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, ... OMIM:266920
Pseudoxanthoma Elasticum, Forme Fruste
Mitral valve prolapse OMIM:177850
Osteogenesis Imperfecta, Type I
Mitral valve prolapse OMIM:166200
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Low-set ears, Horseshoe kidney, Intrauterine growth retardation, Micrognathia, Ventricular septal... ORPHA:166035
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ventricular septal defect, Flexion contracture of finger, Optic disc pallo... ORPHA:464311
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Micrognathia, Ventricular septal defect, Neonata... OMIM:615524
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... ORPHA:93352
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Mitral valve prolapse ORPHA:2712
Alveolar Echinococcosis
Abnormal vertebral morphology, Pulmonary cyst, Abnormal sternum morphology, Abnormal pericardium ... ORPHA:284
Severe Congenital Nemaline Myopathy
Thin ribs, Hypospadias, Low-set ears, Abnormal thorax morphology, Facial diplegia, Adducted thumb... ORPHA:171430
C Syndrome
Low-set ears, Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly... OMIM:211750
Microphthalmia, Syndromic 9
Low-set ears, Micrognathia, Ventricular septal defect, Neonatal death, Atrial septal defect, Sing... OMIM:601186
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Low-set, posteriorly rotated ears, Hearing abnormality, Protruding ... ORPHA:2031
Acrocephalopolydactylous Dysplasia
Low-set ears, Micromelia, Hypoplastic colon, Short neck, Abnormal pinna morphology, Postaxial han... OMIM:200995
Birt-Hogg-Dube Syndrome 1
Spontaneous pneumothorax, Renal cyst, Multiple pulmonary cysts, Large intestinal polyposis, Renal... OMIM:135150
Osteogenesis Imperfecta
Thin ribs, Hearing impairment, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgu... ORPHA:666
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Limb undergrowth, Occipital encephalocele OMIM:614209
7Q31 Microdeletion Syndrome
Enuresis nocturna, Galactosuria, Low-set ears, Gastroesophageal reflux, Clinodactyly of the 2nd f... ORPHA:251061
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Bifid uvula, Renal hypoplasia, Absence of the sacrum, Hypoplastic left hea... OMIM:617660
Vacterl With Hydrocephalus
Abnormality of the outer ear, Absence of the sacrum, Microtia, third degree, Abnormal form of the... ORPHA:3412
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse OMIM:618874
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Intrauterine growth reta... OMIM:617056
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Left ventricular hypertrophy, Atrial septal defect, Mitral valve... ORPHA:230851
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Renal hypoplasia/apl... ORPHA:2473
Robinow Syndrome
Low-set ears, Multicystic kidney dysplasia, Ankyloglossia, Micrognathia, Ventricular septal defec... ORPHA:97360
Floating-Harbor Syndrome
Low-set ears, Dilatation of the renal pelvis, Clinodactyly, Short neck, Atrial septal defect, Bro... ORPHA:2044
2P15P16.1 Microdeletion Syndrome
Low-set ears, Multicystic kidney dysplasia, Hearing impairment, High palate, Dysphagia, Protrudin... ORPHA:261349
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Clinodactyly, Intrauterine growth retardation, Micrognathia, Vesicoureteral ref... OMIM:618460
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short 5th finger, Short distal phalanx of finger, Increased urine alpha-ketoglutarate concentrati... OMIM:220500
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Reduced renal corticomedullary differentiati... OMIM:619902
Zellweger Syndrome
Optic atrophy, Multicystic kidney dysplasia, Epiphyseal stippling, Micrognathia, Death in infancy... ORPHA:912
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Femoral bowing, Situs... OMIM:615415
Stickler Syndrome, Type I
Mitral valve prolapse OMIM:108300
Smith-Lemli-Opitz Syndrome
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis media, Overlapping... OMIM:270400
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly OMIM:614970
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele, Polydactyly OMIM:615397
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Abnormality of t... ORPHA:2869
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Noonan Syndrome 14
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse OMIM:619745
Primary Pulmonary Hypoplasia
Low-set ears, Abnormal pulmonary artery morphology, Secundum atrial septal defect, Ureteral steno... ORPHA:2257
Joubert Syndrome 14
Low-set ears, Optic atrophy, Growth delay, Encephalocele, Ventricular septal defect, Postaxial po... OMIM:614424
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor... ORPHA:75566
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... ORPHA:2260
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... OMIM:216360
Fetal Akinesia Deformation Sequence
Arthrogryposis multiplex congenita, Camptodactyly of finger, Intrauterine growth retardation, Mic... ORPHA:994
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Low-set ears, Short distal phalanx of finger, Horseshoe kidney, Micrognathia, Ventricular septal ... OMIM:250410
Nabais Sa-De Vries Syndrome, Type 2
Hypoplastic left heart, Low-set ears, Multicystic kidney dysplasia, Gastroesophageal reflux, Micr... OMIM:618829
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse ORPHA:449291
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Ventri... ORPHA:818
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Cystic Echinococcosis
Pulmonary cyst, Abnormality of the vertebral column, Abnormal heart morphology, Hepatic cysts, Ov... ORPHA:400
Stuve-Wiedemann Syndrome 1
Thin ribs, Low-set ears, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long b... OMIM:601559
15q26 overgrowth syndrome
Low-set ears, Micrognathia, Sensorineural hearing impairment, Arachnodactyly, Short neck, Abnorma... DECIPHER:81
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Low-set ears, Renal hypoplasia, Hearing impairment, Microphallus, U... OMIM:618454
Postaxial Acrofacial Dysostosis
Low-set ears, Congenital hip dislocation, Pyloric stenosis, Cupped ear, Short thumb, Supernumerar... OMIM:263750
Tonne-Kalscheuer Syndrome
Broad thumb, Growth delay, Velopharyngeal insufficiency, Abnormal heart morphology, Micrognathia,... OMIM:300978
Kagami-Ogata Syndrome
Thin ribs, Micrognathia, Bell-shaped thorax, Kyphoscoliosis, Ventricular septal defect, Pulmonic ... OMIM:608149
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Low-set ears, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Intestinal pseudo-... ORPHA:73246
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Hypoplastic ilia, Narrow chest, Pulmonary hypoplasia, Thoracic hypoplasia, Lateral ... OMIM:617895
Ehlers-Danlos Syndrome, Classic-Like, 2
Mitral valve prolapse OMIM:618000
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Aortic valve stenosis, Low-set ears, Hearing impairment, Subluxati... ORPHA:536471
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse OMIM:104350
Alg3-Cdg
Osteopenia, Hearing impairment, Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormal pinna morp... ORPHA:79321
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Postnatal growth retardation, Ventricular... OMIM:192350
Esophageal Atresia
Abnormal vertebral morphology, Clinodactyly, Hearing impairment, Esophagitis, Abnormal gastrointe... ORPHA:1199
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Proximal tubulopathy, Cardiomyopathy, Villous atrophy, Death in childhood, Death in i... OMIM:212065
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Low-set ears, Distal shortening of limbs, Micrognathia, Protruding tongue, ... ORPHA:50945
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... OMIM:610205
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Hypoplastic iliac wing, Postnatal growth retardation, Carpal bon... OMIM:611717
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Micrognathia, Ovarian cyst, Bilateral sensorineural hearing impairm... OMIM:614527
Otopalatodigital Syndrome, Type Ii
Low-set ears, Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Postnatal growth re... OMIM:304120
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Stage 5 chronic kidney disease, Situs inv... OMIM:615994
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Sandal gap, Vertebral segmentation defect, Ventricular septal defect, Short stature... OMIM:612530
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Low-set ears, Osteopenia, Umbilical hernia, Intrauterine growth retardation, Sensorineural hearin... OMIM:610199
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Right atrial enlargement, Mitral valve prolapse OMIM:620233
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Postnatal... ORPHA:959
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Multicystic kidney dysplasia,... ORPHA:991
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal hypoplasia, Hearing impairment, Optic disc coloboma, Vesicour... ORPHA:1475
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Death in childhood, Death in infancy, Neonatal death, Cardiomegaly, ... OMIM:614096
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Low-set ears, Micrognathia, Ventricular septal defect, Sensorineural hearing impairment, High pal... OMIM:616975
Pseudoxanthoma Elasticum
Restrictive cardiomyopathy, Abnormal endocardium morphology, Mitral valve prolapse ORPHA:758
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Broad thumb, Toe syndactyly, Finger syndactyly, Abnormal helix morp... ORPHA:373
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Cerebellofaciodental Syndrome
Mitral valve prolapse, Ventricular septal defect OMIM:616202
Seckel Syndrome 1
Ivory epiphyses, Low-set ears, Postnatal growth retardation, Micrognathia, High palate, Dislocate... OMIM:210600
Joubert Syndrome 35
Renal fibrosis, Pectus carinatum, Multicystic kidney dysplasia, Low-set ears, Recurrent urinary t... OMIM:618161
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Townes-Brocks Syndrome
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Hearing impairment, Atrial septal def... ORPHA:857
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Micrognathia, Patell... ORPHA:3103
Restrictive Dermopathy 1
Low-set ears, Increased anterioposterior diameter of thorax, Micrognathia, Neonatal death, Atrial... OMIM:275210
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Short neck, Advanced ossificatio... OMIM:615777
Chromosome 10Q26 Deletion Syndrome
Low-set ears, Toe syndactyly, Postnatal growth retardation, Micrognathia, Sensorineural hearing i... OMIM:609625
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Hypospadias, Oral-pharyngeal dysphagia, Postnatal growth retardation, Joint stiffness, Bicoronal ... OMIM:619184
Trisomy 10P
Low-set ears, Gastroesophageal reflux, Abnormal auditory evoked potentials, Short toe, Growth del... ORPHA:171929
Mucolipidosis Type Iii Alpha/Beta
Recurrent upper respiratory tract infections, Conductive hearing impairment, Oligosacchariduria, ... ORPHA:423461
Distal Deletion 12Q
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Overlapping toe, Micr... ORPHA:96149
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hearing impairment, Postnatal growth retardat... OMIM:302960
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Pulmonary hypoplasia, Toe syndactyly, Intestinal malrotation, Amelia, Decreased sku... OMIM:601163
Fraser Syndrome 1
Low-set ears, Atresia of the external auditory canal, Aplasia/Hypoplasia of the sternum, Abnormal... OMIM:219000
Cole-Carpenter Syndrome 2
Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyph... OMIM:616294
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Aplasia of the bladder, Horseshoe kidney, He... OMIM:612284
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Renal cyst, Postax... OMIM:611561
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Micrognathia, Anal atresia, Short foot, Disproportionate short... ORPHA:93271
Hurler Syndrome
Abnormal vertebral morphology, Limitation of joint mobility, Hearing impairment, Endocardial fibr... ORPHA:93473
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts, Wide anterior fontanel OMIM:614883
Fg Syndrome Type 1
Atrial septal defect, Mitral valve prolapse ORPHA:93932
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Growth delay, R... ORPHA:139466
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Ebstein anomaly of the tri... OMIM:611878
Alg9-Cdg
Low-set ears, Large fleshy ears, Micrognathia, Ventricular septal defect, Short neck, Broad ischi... ORPHA:79328
Cranioectodermal Dysplasia 2
Low-set ears, Clinodactyly, Micrognathia, Short neck, Atrial septal defect, High palate, Syndacty... OMIM:613610
Distal Deletion 15Q
Low-set ears, Small hand, Multicystic kidney dysplasia, Hearing impairment, Postnatal growth reta... ORPHA:1596
1P36 Deletion Syndrome
Sensorineural hearing impairment, Abnormal intestine morphology, Abnormality of the kidney, Foot ... ORPHA:1606
Chromosome 13Q33-Q34 Deletion Syndrome
Hearing impairment, Overlapping toe, Micrognathia, Encephalocele, Anal atresia, High palate, Hypo... OMIM:619148
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Abnormal helix morphology, Abnormal heart morpholog... OMIM:214110
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Abnormal helix morphology, Hearing impairment, Micrognathia, Ventricular septal def... OMIM:614866
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Wide anterior fontanel, Glyco... OMIM:231680
Distal Renal Tubular Acidosis
Osteomalacia, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Renal potassium was... ORPHA:18
Tetrasomy 5P
Low-set ears, Recurrent respiratory infections, Postnatal growth retardation, Overlapping toe, Mi... ORPHA:3309
Peroxisome Biogenesis Disorder 1A (Zellweger)
Low-set ears, Abnormal helix morphology, Hearing impairment, Micrognathia, Bell-shaped thorax, Pr... OMIM:214100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Low-set ears, Abnormal ilium morphology, Large fleshy ears, Micrognathia, Atrial septal defect, A... OMIM:614080
8P11.2 Deletion Syndrome
Atrial septal defect, Mitral valve prolapse ORPHA:251066
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Joint hypermobility, High palate, Facial palsy, Scoliosis, Pulm... OMIM:255320
Marfanoid-Progeroid-Lipodystrophy Syndrome
Mitral valve prolapse OMIM:616914
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Hydroureter, Postnatal growth retardation, Vesicoureteral reflux, Nephrolithias... OMIM:617219
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Wide anterior fontanel, Cardiomyopathy, Abnormal he... ORPHA:26791
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Clinodactyly, Postnatal growth retardation, Protruding tongue, Ventricular septal d... OMIM:301040
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Low-set ears, Micrognathia, Hip contracture, Short neck, High palate, Spinal rigidity,... OMIM:620369
22Q11.2 Deletion Syndrome
Low-set ears, Hearing impairment, Micrognathia, Ventricular septal defect, Arachnodactyly, Short ... ORPHA:567
Cutis Laxa, Autosomal Recessive, Type Ic
Micrognathia, Death in childhood, Rectal prolapse, Osteopenia, Multiple bladder diverticula, Gast... OMIM:613177
Legius Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Tetralogy of Fallot, Overlapping toe, Renal insufficiency, Death in infancy, Ventri... OMIM:617478
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Meier-Gorlin Syndrome 3
Low-set ears, Micrognathia, Patellar aplasia, Aplasia/Hypoplasia of the patella, Micropenis, Hypo... OMIM:613803
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Congenital Alveolar Capillary Dysplasia
Abnormal vertebral morphology, Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal ... ORPHA:210122
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, High palate, Polycystic kidney dysplasia, Renal dysplasia, Tapered toe, Renal insuf... OMIM:608836
Cutis Laxa, Autosomal Dominant 3
Low-set ears, Osteopenia, Unilateral renal agenesis, Os odontoideum, Postnatal growth retardation... OMIM:616603
Axial Osteomalacia
Increased bone mineral density, Renal cyst, Osteomalacia OMIM:109130
Saul-Wilson Syndrome
Hypoplasia of the odontoid process, Hearing impairment, Postnatal growth retardation, Micrognathi... OMIM:618150
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Low-set ears, Microretrognathia, Cupped ear, Clinodactyly, Down-sloping shoulders, Renal cyst, Sc... OMIM:615560
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Hyperechogenic kidneys, Bell-shaped thorax, Encephalocele... OMIM:615636
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Lop ear, Ventric... OMIM:107480
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Postnatal growth retardation, Dark urine, Renal cyst, Steatorrhea, Fat malabsorption ORPHA:79303
Mosaic Trisomy 20
Narrow chest, Clinodactyly, Hearing impairment, Spinal canal stenosis, Horseshoe kidney, Intraute... ORPHA:1724
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Proximal tubulopathy, Villous atrophy, Death in childhood, Renal cyst... OMIM:602579
Cohen Syndrome
Mitral valve prolapse, Ventricular septal defect ORPHA:193
Agnathia-Otocephaly Complex
Low-set ears, Microglossia, Secundum atrial septal defect, Tracheomalacia, Conductive hearing imp... OMIM:202650
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse ORPHA:730
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Recurrent respiratory infections, Low-set, posteriorly rotated... ORPHA:2323
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Mitral valve prolapse OMIM:614816
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Multicystic kidney dysplasia, Abnormal femoral torsion, Abnormal right ventricle mo... ORPHA:500095
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall... OMIM:300963
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal heart morphology, Dilatation of the ventricular cavity, Mitral valve prolapse ORPHA:85438
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Hearing impairment, Duodenal atresia, Abnormal lung lobation, Low-s... ORPHA:1052
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Micrognathia, Glue ear, Abnormal m... ORPHA:3310
Frontometaphyseal Dysplasia 1
Cor pulmonale, Mitral valve prolapse OMIM:305620
Cardiospondylocarpofacial Syndrome
Low-set ears, Carpal synostosis, Recurrent otitis media, Ventricular septal defect, Enlarged vest... OMIM:157800
3Mc Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Short 5th finger, Caudal appendage, Hearin... OMIM:257920
Congenital Myopathy 17
Low-set ears, Renal hypoplasia, Narrow chest, Pulmonary hypoplasia, Clinodactyly, Overlapping toe... OMIM:618975
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Epiphyseal stippling, Death in infancy OMIM:614862
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Recurrent otitis media, Postnatal growth retardation, Overlapping toe, Micrognathia... OMIM:213980
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Recurrent otitis media, Postnatal growth retardation, Hypoplastic inferior ilia, Short metacarpal... OMIM:608940
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Postnatal growth retardation, Butterfly vertebrae, V... OMIM:206900
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, H... OMIM:607361
Peters Plus Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Postnatal growth retardation, Micrognathia, Renal h... ORPHA:709
Histiocytosis-Lymphadenopathy Plus Syndrome
Mitral valve prolapse, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Pulmonic st... OMIM:602782
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re... OMIM:210720
Saethre-Chotzen Syndrome
Low-set ears, Broad thumb, Finger syndactyly, Hearing impairment, Prominent crus of helix, Abnorm... ORPHA:794
Phelan-Mcdermid Syndrome
Gastroesophageal reflux, Hearing impairment, Macrotia, Micrognathia, Vesicoureteral reflux, Joint... OMIM:606232
Joubert Syndrome With Hepatic Defect
Nephropathy, Low-set ears, Multicystic kidney dysplasia, Occipital encephalocele, Optic disc colo... ORPHA:1454
Williams Syndrome
Synostosis of joints, Genu valgum, Micrognathia, Death in early adulthood, Mitral valve prolapse,... ORPHA:904
Kabuki Syndrome 1
Abnormal vertebral morphology, Low-set ears, Anoperineal fistula, Hearing impairment, Recurrent o... OMIM:147920
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Unilateral renal agenesis, Absence of the sacrum, Neonatal death, ... OMIM:615709
Meacham Syndrome
Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Scimitar anomaly, Congenital alveo... OMIM:608978
3Mc Syndrome 2
Abnormal vertebral morphology, Caudal appendage, Abnormality of the vertebral column, Hearing imp... OMIM:265050
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ... ORPHA:1112
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal sternum morphology, Intestinal malrotation, Abnormal heart morpholo... ORPHA:2847
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Coronal craniosynostosis, Pyloric stenosis, Pulmonary hypoplasia, Low-set ears, Postna... ORPHA:83617
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Tricuspid valve prolapse, Mitral valve prolapse ORPHA:284979
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Mitral valve prolapse ORPHA:1900
Restrictive Dermopathy
Thin ribs, Low-set ears, Increased anterioposterior diameter of thorax, Micrognathia, Large place... ORPHA:1662
Shprintzen-Goldberg Syndrome
Abnormal aortic valve morphology, Mitral valve prolapse ORPHA:2462
Transketolase Deficiency
Increased level of ribose in urine, Hearing impairment, Abnormal heart morphology, Patent foramen... ORPHA:488618
Cerebellar-Facial-Dental Syndrome
Mitral valve prolapse, Ventricular septal defect ORPHA:444072
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Mitral valve prolapse OMIM:175050
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Dysphagia, Multiple prenatal fractures, Flexion contracture, Arthrogryposis... OMIM:616867
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Inflammation of the large intestine, Bronchiectasis, Interstitial emphysema, Dilat... OMIM:619708
Epidermal Nevus Syndrome
Osteopenia, Polycystic kidney dysplasia, Thoracolumbar scoliosis, Spinal canal stenosis ORPHA:35125
Alagille Syndrome 1
Low-set ears, Ventricular septal defect, Atrial septal defect, Duplicated collecting system, Rena... OMIM:118450
Matthew-Wood Syndrome
Low-set ears, Renal hypoplasia, Duodenal stenosis, Horseshoe kidney, Intrauterine growth retardat... ORPHA:2470
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Renal dysplasia, Intestinal malrotation, Stage 5 chronic kidney disease, R... OMIM:208540
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Cloacal Exstrophy
Hydroureter, Ureterocele, Bladder exstrophy, Intestinal duplication, Abnormal tibia morphology, H... ORPHA:93929
Ogden Syndrome
Low-set ears, Recurrent otitis media, Postnatal growth retardation, Micrognathia, Ventricular sep... OMIM:300855
Dubowitz Syndrome
Small hand, Broad thumb, Toe syndactyly, Hearing impairment, Postnatal growth retardation, Microg... ORPHA:235
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Optic atrophy, Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Meckel Syndrome, Type 1
Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Abnormality of t... OMIM:249000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Low-set ears, Hypoplastic scapulae, Limitation of joint mobility, ... ORPHA:95699
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Renal cyst, Hypospadias, Syndactyly OMIM:605231
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Genu valgum, Micrognathia, Hematuria, Proximal renal tubular acidosis, Hip dislocat... ORPHA:534
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal cyst, Neoplas... ORPHA:480536
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Complete atrioventricular canal defect, Mitral valve prolapse, Subva... OMIM:151100
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hearing impairment, Micrognathia, Patellar aplasia, Hip contracture... OMIM:606170
Yunis-Varon Syndrome
Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Postnatal growth r... ORPHA:3472
Shprintzen-Goldberg Craniosynostosis Syndrome
Mitral valve prolapse OMIM:182212
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Mitral valve prolapse OMIM:607459
Multicentric Osteolysis, Nodulosis, And Arthropathy
Mitral valve prolapse OMIM:259600
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Thoracic hypoplasia, Upper limb undergrowth OMIM:613124
Fraser Syndrome
Abnormality of the outer ear, Toe syndactyly, Finger syndactyly, Atresia of the external auditory... ORPHA:2052
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Hearing impairment, Micrognathia, Arachnodactyly, Short hallux, Ap... ORPHA:280
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... ORPHA:1880
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Anorectal anomaly, Unilateral ... ORPHA:49
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Cardiomyopathy, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, P... ORPHA:445038
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Conductive hearing impairment, Renal agenesis, Preaxial hand polyda... ORPHA:1297
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco... ORPHA:97362
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Postnatal growth ret... OMIM:619135
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Multicystic kidney dysplasia, Atresia of the external auditory canal,... ORPHA:199
Renal Hypodysplasia/Aplasia 4
Bilateral renal agenesis, Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Bilateral renal agenesis, Pulmonary hypoplasia OMIM:615721
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Intrauterine growth retardation,... ORPHA:1556
Microphthalmia, Syndromic 1
Low-set ears, Joint contracture of the hand, Clinodactyly, Hearing impairment, Recurrent otitis m... OMIM:309800
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup... ORPHA:79404
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse ORPHA:536532
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Postnatal growth retardat... OMIM:610832
Fetal Akinesia Deformation Sequence 1
Thin ribs, Low-set ears, Micrognathia, Hip contracture, Short neck, Elbow ankylosis, High palate,... OMIM:208150
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Pulmonary hypoplasia, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplas... OMIM:615503
Joubert Syndrome 2
Low-set ears, Postaxial foot polydactyly, Nephronophthisis, Optic disc coloboma, Renal insufficie... OMIM:608091
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Occipital encephalocele, Atresia of the external auditory canal, Un... OMIM:164210
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Mitral valve prolapse ORPHA:508533
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Umbilical hernia, Postnatal growth retardation, Overlapping toe, Large place... ORPHA:254528
Roberts-Sc Phocomelia Syndrome
Low-set ears, Clinodactyly, Postnatal growth retardation, Micrognathia, Ventricular septal defect... OMIM:268300
Neu-Laxova Syndrome
Osteopenia, Bifid uvula, Rickets, Micromelia, Osteomalacia, Macrotia, Intrauterine growth retarda... ORPHA:2671
Van Maldergem Syndrome 1
Clinodactyly, Atresia of the external auditory canal, Cutaneous finger syndactyly, Micrognathia, ... OMIM:601390
C Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Limitation of joint mobility, Micromelia, Hypoplasi... ORPHA:1308
Orofaciodigital Syndrome I
Low-set ears, Clinodactyly, Hearing impairment, Ankyloglossia, Ovarian cyst, High palate, Polycys... OMIM:311200
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Mitral valve prolapse OMIM:611962
Branchiooculofacial Syndrome
Low-set ears, Hearing impairment, Postnatal growth retardation, Micrognathia, Sensorineural heari... OMIM:113620
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve prolapse, Dextroc... OMIM:620305
Fontaine Progeroid Syndrome
Low-set ears, Micrognathia, Protruding tongue, Neonatal death, Bicuspid aortic valve, Atrial sept... OMIM:612289
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corticomedullar... OMIM:603860
Mesomelia-Synostoses Syndrome
Abnormal vertebral morphology, Metacarpal synostosis, Tarsometatarsal synostosis, Mesomelia, Micr... OMIM:600383
Thauvin-Robinet-Faivre Syndrome
Mitral valve prolapse, Ventricular septal defect OMIM:617107
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u... ORPHA:2973
Joubert Syndrome 1
Nephropathy, Low-set ears, Postaxial foot polydactyly, Clinodactyly, Optic disc coloboma, Occipit... OMIM:213300
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Mitral valve prolapse ORPHA:369950
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Gout, Renal insufficiency, ... OMIM:618061
Neu-Laxova Syndrome 1
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Mic... OMIM:256520
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia, Intestinal m... ORPHA:2241
Scimitar Syndrome
Hypoplastic left heart, Abnormal heart morphology, Tetralogy of Fallot, Mitral atresia, Ventricul... ORPHA:185
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormal form of the vertebral bodies, Hearing impairment, Horseshoe k... ORPHA:3109
Proteus Syndrome
Low-set ears, Rib exostoses, Pulmonary cyst, Finger syndactyly, Exostosis of the external auditor... ORPHA:744
D-Bifunctional Protein Deficiency
Low-set ears, Osteopenia, Thoracic hypoplasia, Hearing impairment, Decreased nerve conduction vel... OMIM:261515
Campomelia, Cumming Type
Bowing of the long bones, Pancreatic cysts, Polycystic kidney dysplasia, Short stature OMIM:211890
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Epiphyseal stippling, Hyperoxaluria, Sensorineural hearing impairment, Renal cyst OMIM:601539
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Hearing impairment, Preaxial hand polydactyly, Narrow inte... ORPHA:233
3Mc Syndrome
Low-set ears, Caudal appendage, Hearing impairment, Large fleshy ears, Umbilical hernia, Postnata... ORPHA:293843
Gaucher Disease, Type Iiic
Aortic valve calcification, Cardiomegaly, Mitral stenosis, Mitral valve calcification OMIM:231005
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hearing impairment, Death in childhood, Neonatal death, Atrial sept... OMIM:308205
Melnick-Needles Syndrome
Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Low-set ears, Congenital pulmonary airway malformation, Hypoplasia of the bladder, Renal agenesis... OMIM:611812
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Steinfeld Syndrome
Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Unilateral renal... OMIM:184705
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Postnatal grow... ORPHA:138
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology ORPHA:1192
Yunis-Varon Syndrome
Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Micrognat... OMIM:216340
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c... ORPHA:50815
Arima Syndrome
Optic atrophy, Postaxial foot polydactyly, Nephronophthisis, Growth delay, Stage 5 chronic kidney... OMIM:243910
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Situs in... OMIM:613095
Nephronophthisis 9
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c... OMIM:613824
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Arthrogryposis multiplex congenita, Secundum atrial septal defect, Cardiomyopa... OMIM:616866
Cog1-Cdg
Posterior rib gap, Osteopenia, Rhizomelia, Low-set, posteriorly rotated ears, Postnatal growth re... ORPHA:263508
Meester-Loeys Syndrome
Mitral valve prolapse OMIM:300989
Charge Syndrome
Low-set ears, Postnatal growth retardation, Micrognathia, Ventricular septal defect, Sensorineura... OMIM:214800
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... OMIM:145001
Marfan Syndrome
Bicuspid aortic valve, Mitral annular calcification, Tricuspid valve prolapse, Mitral valve prolapse OMIM:154700
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Dextrocardia, Hypopla... OMIM:618280
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Finger syndactyly, Hearing impairment, Micrognathia, Foot polydacty... ORPHA:2750
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormality of the outer ear, Finger syndactyly, M... ORPHA:2753
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Tricuspid valve prola... ORPHA:2556
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Pulmonary hypoplasia, Hydroureter, Mesoaxial hand polydactyly, Hydron... OMIM:236700
Pallister-Killian Syndrome
Aortic valve stenosis, Low-set ears, Small hand, Postaxial foot polydactyly, Hearing impairment, ... OMIM:601803
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency,... ORPHA:228308
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Postaxial foot polydactyly, Stage 5 chronic ... OMIM:267010
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
Helsmoortel-Van Der Aa Syndrome
Abnormal heart morphology, Atrial septal defect, Mitral valve prolapse OMIM:615873
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Renal Agenesis, Bilateral
Low-set ears, Renal agenesis, Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistu... ORPHA:1848
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Micrognathia, Hepatoblastoma, Polycystic kidney dysplasia, Esophageal varix, Acute ... ORPHA:731
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Low-set ears, Carpal synostosis, Micr... OMIM:218600
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Low-set, posteriorly rotated ears, Narrow internal auditory canal, Situs inversus t... ORPHA:990
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Atrial septal defect, Mitral valve prolapse OMIM:601776
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Reduced re... OMIM:618733
Lethal Congenital Contracture Syndrome 9
Low-set ears, Joint contracture of the hand, Congenital contracture, Intrauterine growth retardat... OMIM:616503
Cutis Laxa, Autosomal Recessive, Type Iic
Biventricular hypertrophy, Patent foramen ovale, Atrial septal defect, Mitral valve prolapse OMIM:617402
Lymphangioleiomyomatosis
Optic atrophy, Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Emp... ORPHA:538
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Common atrium, Total anomalous pulmonary venous return, Mitral atresia, A... OMIM:306955
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Chronic kidney disease, Inflammation of the large intes... ORPHA:110
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Catel-Manzke Syndrome
Low-set ears, Ulnar deviation of the 2nd finger, Postnatal growth retardation, Genu valgum, Micro... OMIM:616145
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epi... ORPHA:157
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Low-set ears, Mitral stenosis, Renal cyst, Short stature, Posteriorly rotated ears, Renal dysplasia OMIM:617260
Joubert Syndrome 39
Hypoplastic left heart, Occipital encephalocele, Joint contracture of the 5th finger, Postaxial p... OMIM:619562
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Small hand, Micrognathia, Ventricular septal defect, Sagittal craniosyn... OMIM:145420
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Hearing impairment, Horseshoe ... ORPHA:93111
Immunodeficiency 96
Recurrent otitis media, Recurrent lower respiratory tract infections, Multicystic kidney dysplasi... OMIM:619774
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... OMIM:300166
Autosomal Dominant Cutis Laxa
Low-set ears, Osteopenia, Unilateral renal agenesis, Bronchiectasis, Peripheral pulmonary artery ... ORPHA:90348
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormality of the pulmonary veins, Abnormal cardiac ventricle morphology,... ORPHA:2306
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatous colonic polyposis OMIM:617100
Diaphragmatic Hernia 4, With Cardiovascular Defects
Low-set ears, Pulmonary artery hypoplasia, Optic nerve hypoplasia, Finger syndactyly, 11 pairs of... OMIM:620025
Rheumatic Fever
Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal mitral valve morpholo... ORPHA:3099
Congenital Disorder Of Glycosylation, Type If
Optic atrophy, Renal cortical cysts, Death in infancy, Flexion contracture, Wide anterior fontanel OMIM:609180
Meckel Syndrome
Optic atrophy, Multicystic kidney dysplasia, Postaxial foot polydactyly, Aplasia/Hypoplasia of th... ORPHA:564
Leopard Syndrome 3
Tetralogy of Fallot, Abnormal aortic valve morphology, Abnormal mitral valve morphology OMIM:613707
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia, Micrognathia, Arthrogryposis multiplex congenita, Short thorax OMIM:601809
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal... ORPHA:363700
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a... OMIM:613426
Syndromic Diarrhea
Renal hypoplasia, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of F... ORPHA:84064
Costello Syndrome
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Atrial septal defe... OMIM:218040
Tetraamelia Syndrome 1
Low-set ears, Abnormal clavicle morphology, Abnormal scapula morphology, Renal agenesis, Microgna... OMIM:273395
Coffin-Lowry Syndrome
Narrow palate, Bifid sternum, Pectus carinatum, Kyphosis, Hearing impairment, Rectal prolapse, Se... OMIM:303600
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Marfan Syndrome
Tricuspid valve prolapse, Mitral valve calcification, Mitral valve prolapse ORPHA:558
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
Peters-Plus Syndrome
Low-set ears, Square pelvis bone, Hearing impairment, Postnatal growth retardation, Micrognathia,... OMIM:261540
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Gout, De... OMIM:137920
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Noonan Syndrome 1
Low-set ears, Clinodactyly, Hearing impairment, Postnatal growth retardation, Micrognathia, Ventr... OMIM:163950
Gaucher Disease, Perinatal Lethal
Low-set ears, Thoracic hypoplasia, Intrauterine growth retardation, Micrognathia, Neonatal death,... OMIM:608013
Usher Syndrome Type 1
Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231169
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatous colonic polypos... ORPHA:220460
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Micrognathia, Renal cortical cysts, Vesicoureteral reflux, Uplifted earlobe, Pectus excavatum, Sc... OMIM:618548
Renal Hypodysplasia/Aplasia 1
Low-set ears, Bilateral renal agenesis, Proteinuria, Renal dysplasia, Pulmonary hypoplasia OMIM:191830
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Mitral valve prolapse, Ventricular septal defect, Patent foramen ovale, P... OMIM:180849
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Re... OMIM:219730
Mody
Nephropathy, Glycosuria, Intrauterine growth retardation, Renal cyst, Abnormality of the kidney, ... ORPHA:552
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithi... ORPHA:99880
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Mitral valve prolapse, Bicuspid pulmonary valve OMIM:609192
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Progressive sensorineural hearing impairment, Abnormal heart morpholog... ORPHA:2237
Von Hippel-Lindau Disease
Cardiomyopathy, Vertigo, Elevated urinary catecholamine level, Papilledema, Multiple renal cysts,... ORPHA:892
Parathyroid Carcinoma
Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithi... ORPHA:143
Loeys-Dietz Syndrome 2
Patent foramen ovale, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Bicuspi... OMIM:610168
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology ORPHA:1876
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Hydroureter, Polydactyly, Hydronephrosis, Postaxial hand polydactyly,... OMIM:615989
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atre... ORPHA:63260
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Aspirat... ORPHA:52368
Congenital Diaphragmatic Hernia
Intestinal malrotation, Prominent sternum, Pulmonary hypoplasia ORPHA:2140
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Osteomalacia, Renal insufficie... OMIM:600740
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Hearing impairment, Renal insufficiency, Renal hypopla... ORPHA:261265
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Epiphyseal stippling, Arthrogryp... ORPHA:86822
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Glandular hypospadias, Cardiomegaly, Pneumothorax, Short femur, Pulmonary hypoplasia OMIM:620306
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Long hallux, Genu va... ORPHA:261537
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Low-set ears, Gastroesophageal reflux, Anteriorly placed anus, Micrognathia, Renal cyst, Short ne... ORPHA:495875
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... OMIM:174000
Histiocytoid Cardiomyopathy
Optic atrophy, Ventricular septal defect, Pulmonary edema, Renal cyst, Cardiomegaly, Polycystic o... ORPHA:137675
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Mitral valve prolapse ORPHA:79474
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Mowat-Wilson Syndrome
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Genu valgum, Sensori... ORPHA:2152
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage 5 chronic kidney ... OMIM:256100
Holt-Oram Syndrome
Hypoplastic left heart, Secundum atrial septal defect, Muscular ventricular septal defect, Left v... OMIM:142900
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Pulmonary lymphangio... ORPHA:805
Tuberous Sclerosis 2
Hearing impairment, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Re... OMIM:613254
Von Hippel-Lindau Syndrome
Vertigo, Sensorineural hearing impairment, Tinnitus, Multiple renal cysts, Renal cell carcinoma, ... OMIM:193300
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Mitral valve prolapse ORPHA:287
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Osteomalacia, Postnatal growth retardation, Genu ... OMIM:309000
Treacher-Collins Syndrome
Conductive hearing impairment, Abnormality of the vertebral column, Branchial fistula, Narrow int... ORPHA:861
Mpdu1-Cdg
Optic atrophy, Renal cortical cysts, Absence of acoustic reflex, Wide anterior fontanel ORPHA:79323
Pearson Syndrome
Growth delay, Glycosuria, Cardiomyopathy, Hearing impairment, Abnormal heart morphology, Postnata... ORPHA:699
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Short stature, Holoprosencephaly, Growth delay, Cleft palate, Pulmon... ORPHA:250999
Thoracoabdominal Syndrome
Renal agenesis, Anencephaly, Transposition of the great arteries, Hydrocephalus, Ectopia cordis, ... OMIM:313850
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Occipital encephalocele, 11 pairs of ribs, Optic nerve dysplasia, H... OMIM:615287
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Beckwith-Wiedemann Syndrome
Nephropathy, Hearing impairment, Abnormal earlobe morphology, Large placenta, Hepatoblastoma, Hyp... ORPHA:116
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Long hallux, Genu va... ORPHA:261552
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Microretrognathia, Pulmonary artery atresia, Tracheomalacia, Atelectasis, Patent... OMIM:620371
Nephronophthisis 4
Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub... OMIM:606966
Stickler Syndrome
Mitral valve prolapse ORPHA:828
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Renal cortical hyperechogenicity, Ileal atresia, Anuria, Megacystis, Pyelonephritis, ... OMIM:619351
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology ORPHA:1131
Tuberous Sclerosis 1
Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Renal cell... OMIM:191100
Williams-Beuren Syndrome
Coronary artery stenosis, Myxomatous mitral valve degeneration, Mitral valve prolapse, Ventricula... OMIM:194050
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Mitral valve prolapse, Bicuspid aortic valve, Left ventricular hypertrop... OMIM:613795
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Mitral atresia, Abnormal cardiac septum morphology ORPHA:140952
Viss Syndrome
Coronary sinus enlargement, Right ventricular hypertrophy, Mitral valve prolapse, Ventricular sep... OMIM:619472
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Pulmonary hypoplasia OMIM:267430
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Polymyositis
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal mitral valve morphology, Pericarditis ORPHA:732
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Coffin-Siris Syndrome 4
Mitral atresia, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614609
Dpagt1-Cdg
Optic atrophy, Clinodactyly, Hearing impairment, Diffuse optic disc pallor, Arachnodactyly, Campt... ORPHA:86309
Hypermobile Ehlers-Danlos Syndrome
Mitral valve prolapse ORPHA:285
Truncus Arteriosus
Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery hypoplasia, Abnormal lung... ORPHA:3384
Ehlers-Danlos Syndrome, Vascular Type
Mitral valve prolapse OMIM:130050
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi... OMIM:618164
Cerebrofacioarticular Syndrome
Osteopenia, Renal hypoplasia, Anal stenosis, Caudal appendage, Tracheomalacia, Anteriorly placed ... ORPHA:314679
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... ORPHA:77261
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Von Willebrand Disease
Abnormal mitral valve morphology ORPHA:903
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology ORPHA:1292
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Caroli Disease
Polycystic kidney dysplasia, Cholangiocarcinoma, Esophageal varix ORPHA:53035
Alkaptonuria
Aortic valve calcification, Mitral valve calcification OMIM:203500
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Cardiomyopathy, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Ne... OMIM:130650
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncu... ORPHA:980
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Pmm2-Cdg
Platyspondyly, Osteopenia, Nephrotic syndrome, Aspiration pneumonia, Hypertrophic cardiomyopathy,... ORPHA:79318
Caroli Syndrome
Hematemesis, Cholangiocarcinoma, Abnormality of the kidney, Melena, Polycystic kidney dysplasia, ... ORPHA:480520
Joubert Syndrome 5
Nephronophthisis, Occipital encephalocele, Stage 5 chronic kidney disease, Renal cortical cysts, ... OMIM:610188
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse ORPHA:286
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Mitral valve calcification ORPHA:363618
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration ORPHA:95433
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Anomalous origin of right pulmonary artery from ascending aorta, Tetralog... ORPHA:99050
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Mitral stenos... ORPHA:56
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology ORPHA:1969
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertrophic cardiomyopathy, Mitral atresia, Bicuspid aortic valve, Left ventricular hypertrophy,... OMIM:220111
Mucolipidosis Type Ii
Cardiomyopathy, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Patent forame... ORPHA:576
Mucopolysaccharidosis Type 2
Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve morphology, Abnormal pulmonary va... ORPHA:580
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Ventricular septal de... OMIM:619503
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Right ventricular dilatation, Abnormal mitral valve morphology ORPHA:99103
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral stenosis, Abno... ORPHA:740
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi... ORPHA:2729
Norrie Disease
Optic atrophy, Abnormal helix morphology, Sensorineural hearing impairment, Protruding ear, Delay... ORPHA:649

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.

There is no histopathology data for Dchs1

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 Dchs1.

No publications found that use IMPC mice or data for Dchs1.

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