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Gene: Fat4 MGI:3045256

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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:
FAT atypical cadherin 4
Synonyms:
6030410K14Rik

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 Fat4 mutations

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

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

The table below shows human diseases predicted to be associated to Fat4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Dysosteosclerosis
Absent paranasal sinuses, Hearing impairment, Sclerosis of hand bone, Micrognathia, Increased int... OMIM:224300
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Myelomeningocele, Missing ribs, S... ORPHA:66637
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... OMIM:620076
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Scarf Syndrome
Pectus carinatum, Abnormal form of the vertebral bodies, Perineal hypospadias, Umbilical hernia, ... ORPHA:3134
Tarp Syndrome
Low-set ears, Clinodactyly, Micrognathia, Atrial septal defect, High palate, Tetralogy of Fallot,... OMIM:311900
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia, Abnormal antihelix morphology,... ORPHA:2886
Prune Belly Syndrome
Multicystic kidney dysplasia, Abnormality of the ureter, Ventricular septal defect, Aplasia/Hypop... ORPHA:2970
Cornelia De Lange Syndrome 1
Low-set ears, Micrognathia, Ventricular septal defect, Sensorineural hearing impairment, Short ne... OMIM:122470
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Joint stiffness, Abnormal hip bone morphology, Vesicoureteral reflux, Microg... ORPHA:1166
Orofaciodigital Syndrome Type 3
Low-set ears, Bifid uvula, Postaxial foot polydactyly, Lobulated tongue, Hamartoma of tongue, Sta... ORPHA:2752
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Multiple Synostoses Syndrome 1
Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Proximal... OMIM:186500
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Bardet-Biedl Syndrome 16
Bronchiolitis, Renal agenesis, Hearing impairment, Recurrent otitis media, Stage 5 chronic kidney... OMIM:615993
Axial Mesodermal Dysplasia Spectrum
Abnormality of the ureter, Micrognathia, Abnormal gastrointestinal tract morphology, Renal hypopl... ORPHA:1834
Odontochondrodysplasia 1
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... OMIM:184260
Scarf Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus carinatum, Low-set ears, Abnormal f... OMIM:312830
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Donnai-Barrow Syndrome
Low-set ears, Hearing impairment, Umbilical hernia, Intestinal malrotation, Ventricular septal de... OMIM:222448
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Mesomelia, Abnormal epiphysis morphology, Camptodactyly of finger, Abnormal lung lobation, Low-se... ORPHA:2631
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Orofaciodigital Syndrome Iii
Low-set ears, Bifid uvula, Postaxial foot polydactyly, Tongue nodules, Short sternum, Postaxial h... OMIM:258850
Mosaic Variegated Aneuploidy Syndrome 1
Low-set ears, Multicystic kidney dysplasia, Micrognathia, Nephroblastoma, Short sternum, Short ne... OMIM:257300
Marshall-Smith Syndrome
Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ... OMIM:602535
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Low-set ears, Micrognathia, Renal hypoplasia/aplasia, Radioulnar... ORPHA:1988
Poland Syndrome
Abnormality of the outer ear, Small hand, Finger syndactyly, Ureterocele, Aplasia/Hypoplasia of t... ORPHA:2911
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Polydactyly OMIM:615987
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Narrow chest, Rhizomelia, Hy... OMIM:617661
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Trident pelvis, Joint hypermobility, Bowing of the lon... OMIM:614815
Ulbright-Hodes Syndrome
Thin ribs, Low-set ears, Fibular aplasia, Micrognathia, Humeroradial synostosis, Short neck, Ovoi... ORPHA:3404
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Peroxisome Biogenesis Disorder 6A (Zellweger)
Low-set ears, Renal cyst, Neonatal death OMIM:614870
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Unossified sacrum, Micromelia, Hearing impairment, Absent vertebr... ORPHA:93296
Atelosteogenesis Type I
Platyspondyly, Low-set ears, Narrow chest, Rhizomelia, Pulmonary hypoplasia, Thoracic hypoplasia,... ORPHA:1190
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Clinodactyly, Renal agenesis, Branchial cyst, Joint hypermobi... OMIM:615583
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Renal hypoplasia, Microretrognathia, Hydranencephaly, Ureteral agenesis, 2-3 toe sy... OMIM:236500
Diaphanospondylodysostosis
Low-set ears, Nephrogenic rest, Micrognathia, Bell-shaped thorax, Decreased skull ossification, S... OMIM:608022
Schinzel-Giedion Midface Retraction Syndrome
Low-set ears, Aplasia/Hypoplasia of the pubic bone, Short neck, Hepatoblastoma, Atrial septal def... OMIM:269150
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Decreased skull ossifi... OMIM:616897
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Low-set ears, Pulmonary artery atresia, Patent foramen ovale, Ventricular septal defect, Clinodac... OMIM:620113
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Aplasia/Hypoplasia of the lungs, Coarse metaphyseal trabeculariza... ORPHA:2635
Thanatophoric Dysplasia
Platyspondyly, Abnormal ilium morphology, Narrow chest, Low-set ears, Short thorax, Micromelia, H... ORPHA:2655
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Hearing impairment, Ventricular septal defect, 2-3... OMIM:312870
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Short neck, Short greater sciatic notch, Flat aceta... OMIM:256050
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Hyperechogenic kidneys, In... OMIM:617866
Czeizel-Losonci Syndrome
Micrognathia, 2-3 finger syndactyly, Thoracolumbar scoliosis, Dextrocardia, High palate, Ureteral... ORPHA:2437
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Dilatation of the renal pelvis, Micrognathia, Sensorineu... ORPHA:314588
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm... ORPHA:1354
Meckel Syndrome, Type 8
Low-set ears, Narrow chest, Occipital encephalocele, Hyperechogenic kidneys, Encephalocele, Polyd... OMIM:613885
Momo Syndrome
Femoral bowing, Short sternum, Short neck, Underfolded helix, Abnormal bone ossification, High pa... ORPHA:2563
Rhyns Syndrome
Osteopenia, Hypoplastic ilia, Multicystic kidney dysplasia, Nephronophthisis, Hearing impairment,... ORPHA:140976
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Joint hypermobili... ORPHA:3033
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... OMIM:314390
Coffin-Siris Syndrome 1
Low-set ears, Hearing impairment, Aplasia/Hypoplasia of the patella, Ventricular septal defect, A... OMIM:135900
Fibrodysplasia Ossificans Progressiva
Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Hearing impair... ORPHA:337
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Turnpenny-Fry Syndrome
Low-set ears, Small hand, Clinodactyly, Overlapping toe, Mitral valve prolapse, Atrial septal def... OMIM:618371
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Low-set ears, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof,... OMIM:151210
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Abnormal lung lobation, Abnormal heart morphology, Large fleshy ears, Micrognathia,... OMIM:263210
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Vacterl/Vater Association
Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Aplasia/Hypoplasia of t... ORPHA:887
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Momo Syndrome
Short sternum, Short neck, Underfolded helix, High palate OMIM:157980
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Low-set, ... ORPHA:1486
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Vertebral segmentati... OMIM:618845
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Anencephaly, Postaxial polydact... OMIM:614175
Trisomy 13
Low-set ears, Abnormal helix morphology, Abnormality of the ureter, Abnormal antihelix morphology... ORPHA:3378
Turner Syndrome Due To Structural X Chromosome Anomalies
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... ORPHA:99413
Mosaic Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... ORPHA:99228
Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... ORPHA:99226
Turner Syndrome
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... ORPHA:881
Bor Syndrome
Multicystic kidney dysplasia, Hearing impairment, Atresia of the external auditory canal, Branchi... ORPHA:107
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Pulmonary hypoplasia, Aplasia/Hypoplasia of the sacrum, R... ORPHA:3027
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Hearing abnormality, Protruding ear, Radioulnar synostosis, Pectus ... ORPHA:3270
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis, Sensorineural hearing impairment ORPHA:2744
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defe... OMIM:618316
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Multicystic kidney dysplasia, Gastroesophageal reflux, Conductive ... ORPHA:261197
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves... OMIM:113650
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Abnormal lu... ORPHA:3301
Genitopalatocardiac Syndrome
Low-set ears, Micrognathia, Ventricular septal defect, Renal cyst, Transposition of the great art... OMIM:231060
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Renal hypop... ORPHA:958
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Joint hypermobility, Hydronephrosis, Ven... OMIM:620511
Cerebrocostomandibular Syndrome
Low-set ears, Cleft soft palate, Micrognathia, Bell-shaped thorax, Ventricular septal defect, Sho... OMIM:117650
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
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Short-Rib Thoracic Dysplasia 12
Low-set ears, Hypoplastic scapulae, Ventricular septal defect, Short neck, Short palm, Short foot... OMIM:269860
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow ... ORPHA:85166
Mosaic Trisomy 9
Low-set ears, Limitation of joint mobility, Micrognathia, Endocardial fibroelastosis, Ventricular... ORPHA:99776
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Hearing impairment, Carpal synostosis, Fibular aplasia,... ORPHA:90652
Joubert Syndrome 7
Nephronophthisis, Stage 5 chronic kidney disease, Genu valgum, Encephalocele, Postaxial polydacty... OMIM:611560
Say Syndrome
Short distal phalanx of finger, Macrotia, Micrognathia, Ulnar deviation of the 3rd finger, Proxim... OMIM:181180
Hajdu-Cheney Syndrome
Low-set ears, Genu valgum, Fibular bowing, Micrognathia, Ventricular septal defect, Crowded carpa... OMIM:102500
Campomelia, Cumming Type
Clubbing of toes, Multicystic kidney dysplasia, Micromelia, Abnormal thorax morphology, Bowing of... ORPHA:1318
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Cone-shaped epiphysis, Thoracic hypop... OMIM:613091
Acrorenal-Mandibular Syndrome
Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi... OMIM:200980
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Limitation of joint mobility, Broad long bones, Micrognathia, Encephalocele, Short ... ORPHA:1865
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture... OMIM:616531
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Abnormal heart morphology, Stage 5 chronic kidney disease, Hydronephro... OMIM:613390
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Marden-Walker Syndrome
Low-set ears, Joint contracture of the hand, Micrognathia, Arachnodactyly, Radioulnar synostosis,... OMIM:248700
Gorham-Stout Disease
Osteopenia, Hearing impairment, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnorm... ORPHA:73
Braddock-Carey Syndrome 1
Small hand, Multicystic kidney dysplasia, Clinodactyly, Anteriorly placed anus, Macrotia, Ventric... OMIM:619980
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia ORPHA:3032
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Renal hypoplasia, Absent thumb, Abnormality of the vertebral colum... OMIM:276950
Cerebrocostomandibular Syndrome
Posterior rib gap, Multicystic kidney dysplasia, Hydranencephaly, Conductive hearing impairment, ... ORPHA:1393
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Hearing impairment, Vertebral segmentation defect, Short neck, Abnormal rib morph... ORPHA:2578
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Microglossia, Renal dysplasia, Micromelia, Occipital ... OMIM:241800
Marden-Walker Syndrome
Low-set ears, Multicystic kidney dysplasia, Micrognathia, Renal hypoplasia/aplasia, Arachnodactyl... ORPHA:2461
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Multiple renal cysts, Back pain ORPHA:2924
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Bell-shaped thorax, Encephalocele, Anal atresia, Flat acetabular roof, Patent ductus... OMIM:616300
Mosaic Trisomy 16
Short forearm, Clinodactyly, Hearing impairment, Large placenta, Ventricular septal defect, Atria... ORPHA:1708
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Distal shorte... OMIM:146510
Bardet-Biedl Syndrome 4
Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, Syndactyly OMIM:615982
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowin... ORPHA:3035
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
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Low-set ears, Overlapping toe, Absent fifth metatarsal, Atrial sep... OMIM:620662
Trisomy 20P
Finger syndactyly, Abnormality of the ureter, Micrognathia, Abnormal antihelix morphology, Short ... ORPHA:261318
Achondrogenesis, Type Ia
Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morp... OMIM:200600
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Back pain OMIM:174050
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Anal stenosis, Myelomeningocele, Abnormal odontoid process morphology, Bell-shap... OMIM:613686
Trisomy 17P
Aortic valve stenosis, Macroglossia, Hypoplasia of penis, Urethral valve, Hypoplastic left heart,... ORPHA:261290
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Gastroesophageal reflux... OMIM:301111
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Nephrocalcinosis, Restrictive cardiomyopathy, Hydrourete... OMIM:615398
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Renal agenesis, Abnormal sternum morphology, Abnormal tibia mor... ORPHA:1335
Mosaic Trisomy 1
Low-set ears, Toe syndactyly, Broad 2nd toe, Ventricular septal defect, Arachnodactyly, 2-3 finge... ORPHA:1692
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Hamartoma of ton... OMIM:616546
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Epiphyseal stippling, Polycystic kidney dysplasia, Wide anterior fontanel OMIM:614859
Achondroplasia
Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Thor... OMIM:100800
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Thoracic hypopla... OMIM:187600
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Low-set ears, Short finger, Hypoplastic heart, Micrognathia, Increased susceptibility ... OMIM:312150
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial septal defect, Polycystic kid... OMIM:263520
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Neonatal death, Optic disc pallor, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... OMIM:102510
Harrod Syndrome
Hypospadias, Abnormal pelvic girdle bone morphology, Multicystic kidney dysplasia, Abnormal shoul... ORPHA:2115
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Hearing impairment, Optic disc pallor, Scoliosis, Kyphosis OMIM:617087
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
Radio-Renal Syndrome
High, narrow palate, Multicystic kidney dysplasia, Chylothorax, Abnormal form of the vertebral bo... ORPHA:3015
Greenberg Dysplasia
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... OMIM:215140
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Abnormal vertebral morphology, Conductive hearing impairment, Abnormality of th... OMIM:239800
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Meier-Gorlin Syndrome 7
Low-set ears, Hearing impairment, Aplasia/Hypoplasia of the patella, Urethral stricture, Ventricu... OMIM:617063
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Aplasia/hypoplasia of... ORPHA:2839
Genitopalatocardiac Syndrome
Low-set ears, Hypospadias, Multicystic kidney dysplasia, Micrognathia, Brachydactyly, Abnormal ca... ORPHA:2075
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Internally rotated shoulders, Elbow flexion contracture, Micrognathia,... OMIM:617468
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly... ORPHA:2091
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Multicystic kidney dysplasia, Fibular aplasia, Micro... OMIM:300373
Kaposiform Lymphangiomatosis
Abnormal lung morphology, Fractures of the long bones, Abnormal form of the vertebral bodies, Ost... ORPHA:464329
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, S... ORPHA:2311
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Esophagitis, Amelia, Perineal fistula, Renal hypoplasia/aplasia, Ab... ORPHA:2538
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Low-set ears, Short finger, Hypoplastic heart, Micrognathia, Increased susceptibility ... OMIM:253290
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Encephalocele OMIM:614465
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Hearing impairment, Micrognathia, Single ventricle, 2-5 ... OMIM:308050
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Joint hypermobility, Ventricular septal d... ORPHA:3375
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Hypospadias, Toe syndactyly, Short thumb, Anteriorly placed anus, ... ORPHA:2319
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Multicystic kidney dysplasia, Toe syndactyly, Microre... ORPHA:261344
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Clinodactyly, Micrognathia, Atrial septal defect, Hig... ORPHA:96148
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Femoral-Facial Syndrome
Low-set ears, Toe syndactyly, Micrognathia, Humeroradial synostosis, Encephalocele, Limited elbow... OMIM:134780
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele OMIM:615397
Meckel Syndrome 14
Low-set ears, Pulmonary hypoplasia, Postaxial foot polydactyly, Microretrognathia, Occipital ence... OMIM:619879
Focal Dermal Hypoplasia
Low-set ears, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Hearing impairment... ORPHA:2092
Fetal Akinesia Deformation Sequence 4
Low-set ears, Prenatal death, Neonatal death, Short neck, Posteriorly rotated ears, Kyphosis OMIM:618393
Atelosteogenesis Type Ii
Low-set ears, Hypoplastic cervical vertebrae, Genu valgum, Micrognathia, Bell-shaped thorax, Bila... ORPHA:56304
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Atlantoaxial dislocation, Dysplasia of the femoral head, Micrognathia, Mitral valve... ORPHA:536467
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Preaxial hand polydactyly... ORPHA:1120
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Acrocephalopolydactylous Dysplasia
Low-set ears, Micromelia, Hypoplastic colon, Short neck, Abnormal pinna morphology, Postaxial han... OMIM:200995
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Abnormality of the ureter,... ORPHA:798
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hearing impairment, 11 pairs of ribs, Ventricular septal defect, T... ORPHA:77298
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Bowing of the long bones, Renal cyst, Atrial septal def... OMIM:611134
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Abnormal localization of kidney, Abnormal pelvic girdle bone morphology, Finger syn... ORPHA:3429
Fryns Syndrome
Thin ribs, Low-set ears, Joint contracture of the hand, Abnormal helix morphology, Ventricular se... OMIM:229850
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Occipital encephalocele, Twelfth rib hypoplasia, Bell-shaped thorax, Micrognathia, ... ORPHA:397715
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Short tibia, Micrognathia, Short neck, Anal atresia, Abnormal pinna morphology, Ham... OMIM:617925
Fryns Syndrome
Multicystic kidney dysplasia, Micrognathia, Short neck, Anal atresia, High palate, Hypospadias, D... ORPHA:2059
Vacterl With Hydrocephalus
Abnormality of the outer ear, Absence of the sacrum, Microtia, third degree, Abnormal form of the... ORPHA:3412
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Restrictive cardiomyopathy, Hearing impairment, Micrognathia, Abnormal gastrointest... ORPHA:369837
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Hearing impairment, Optic disc coloboma, Vesicour... ORPHA:1475
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... ORPHA:2260
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotation, Optic ... OMIM:120330
Severe Congenital Nemaline Myopathy
Thin ribs, Hypospadias, Low-set ears, Abnormal thorax morphology, Facial diplegia, Adducted thumb... ORPHA:171430
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Hip dislocation, Villous atrophy, Short neck, Atrial septal defect, Pericardial eff... OMIM:608776
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Hypoplastic ilia, Narrow chest, Pulmonary hypoplasia, Thoracic hypoplasia, Lateral ... OMIM:617895
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syn... ORPHA:1507
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Low-set ears, Hypoplastic cervi... OMIM:114290
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Ulnar deviation of finger, Broad thumb, Conduct... ORPHA:2876
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hearing impairment, Renal insufficiency, Renal tubular acidosis, Death in child... OMIM:614922
Meckel Syndrome 13
Flexion contracture, Micrognathia, Polycystic kidney dysplasia, Occipital encephalocele OMIM:617562
Kagami-Ogata Syndrome
Thin ribs, Micrognathia, Bell-shaped thorax, Kyphoscoliosis, Ventricular septal defect, Pulmonic ... OMIM:608149
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Limitation of joint mobility, Finger syndactyly, Hearing impairment, Micrognathia, ... ORPHA:2990
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Polydactyly, Bowing of the long bones, Renal cyst, Postaxi... OMIM:603194
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Bifid uvula, Renal hypoplasia, Absence of the sacrum, Hypoplastic left hea... OMIM:617660
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Fibular bowing... ORPHA:1427
Birt-Hogg-Dube Syndrome 1
Spontaneous pneumothorax, Renal cyst, Large intestinal polyposis, Multiple pulmonary cysts, Renal... OMIM:135150
Lethal Congenital Contracture Syndrome 10
Low-set ears, Narrow palate, Narrow chest, Stiff neck, Broad ribs, Overlapping fingers, Femoral b... OMIM:617022
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... OMIM:610205
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Ventricular septal d... ORPHA:2473
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Left ventricular hypertrophy, Abnormal renal corticomedullary differentiation... OMIM:616733
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short 5th finger, Short distal phalanx of finger, Increased urine alpha-ketoglutarate concentrati... OMIM:220500
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scheuermann-like vertebral changes, Micropenis, Scoliosis, Kyphos... OMIM:301900
Bresek Syndrome
Low-set ears, Renal hypoplasia, Hypoplasia of the bladder, Hearing impairment, Vesicoureteral ref... ORPHA:85284
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Pulmonary hypoplasia, Toe syndactyly, Intestinal malrotation, Amelia, Decreased sku... OMIM:601163
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Genitopatellar Syndrome
Low-set ears, Hypoplastic ilia, Multicystic kidney dysplasia, Gastroesophageal reflux, Hearing im... ORPHA:85201
Kleefstra Syndrome
Limitation of joint mobility, Hearing impairment, Ventricular septal defect, Bicuspid aortic valv... ORPHA:261494
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... OMIM:619902
Meier-Gorlin Syndrome 1
Thin ribs, Low-set ears, Joint contracture of the hand, Small hand, Hearing impairment, Atresia o... OMIM:224690
Alg3-Cdg
Osteopenia, Hearing impairment, Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormal pinna morp... ORPHA:79321
Hajdu-Cheney Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Micrognathia, Decreased skull ossificati... ORPHA:955
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
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
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Alveolar Echinococcosis
Abnormal vertebral morphology, Pulmonary cyst, Abnormal sternum morphology, Abnormal pericardium ... ORPHA:284
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Elbow flexion contracture, Distal arthrogryposis, Flexion contracture of finge... OMIM:617194
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Bilateral radial aplasia, Low-set ears, Absent thumb, Renal agenes... OMIM:300514
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Myelomeningocele, Bifid sacrum, Renal hypoplas... ORPHA:1756
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Exostosis of the external auditory canal, Micrognathia, Dysplastic patella, Patella... OMIM:265000
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif... OMIM:215045
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Abnormality of t... ORPHA:2869
2Q37 Microdeletion Syndrome
Small hand, Toe syndactyly, Multicystic kidney dysplasia, Finger syndactyly, Tracheomalacia, Cond... ORPHA:1001
C Syndrome
Low-set ears, Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly... OMIM:211750
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Hepatic cysts, Ventricular septal defect, Renal cyst, Duplication of p... OMIM:263630
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
15q26 overgrowth syndrome
Low-set ears, Micrognathia, Sensorineural hearing impairment, Arachnodactyly, Short neck, Abnorma... DECIPHER:81
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... ORPHA:93352
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Optic disc pall... ORPHA:464306
Esophageal Atresia
Abnormal vertebral morphology, Clinodactyly, Hearing impairment, Esophagitis, Abnormal gastrointe... ORPHA:1199
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly OMIM:614970
Nabais Sa-De Vries Syndrome, Type 2
Hypoplastic left heart, Low-set ears, Multicystic kidney dysplasia, Gastroesophageal reflux, Micr... OMIM:618829
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Low-set, posteriorly rotated ears, Hearing abnormality, Protruding ... ORPHA:2031
Cystic Echinococcosis
Pulmonary cyst, Abnormality of the vertebral column, Abnormal heart morphology, Hepatic cysts, Ov... ORPHA:400
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Stage 5 chronic kidney disease, Situs inv... OMIM:615994
Primary Pulmonary Hypoplasia
Low-set ears, Abnormal pulmonary artery morphology, Secundum atrial septal defect, Ureteral steno... ORPHA:2257
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Platyspondyly, Abnormal epiphysis m... ORPHA:50945
Microcephaly-Micromelia Syndrome
Low-set ears, Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Hu... OMIM:251230
7Q31 Microdeletion Syndrome
Enuresis nocturna, Galactosuria, Low-set ears, Gastroesophageal reflux, Clinodactyly of the 2nd f... ORPHA:251061
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ventricular septal defect, Flexion contracture of finger, Optic disc pallo... ORPHA:464311
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Scoliosis, Kyphosis, Hearing impairment ORPHA:101075
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Kyphosis, Hearing impairment, Neonatal death OMIM:618237
Osteogenesis Imperfecta
Thin ribs, Hearing impairment, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgu... ORPHA:666
Floating-Harbor Syndrome
Low-set ears, Dilatation of the renal pelvis, Clinodactyly, Short neck, Atrial septal defect, Bro... ORPHA:2044
Infantile Myofibromatosis
Limitation of joint mobility, Abnormal thorax morphology, Bone cyst, Intestinal obstruction, Abno... ORPHA:2591
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... OMIM:216360
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal sternum morphology, Intestinal malrotation, Abnormal heart morpholo... ORPHA:2847
Robinow Syndrome
Low-set ears, Multicystic kidney dysplasia, Ankyloglossia, Micrognathia, Ventricular septal defec... ORPHA:97360
Raine Syndrome
Low-set ears, Long hallux, Micrognathia, Protruding tongue, Bowing of the long bones, Short neck,... OMIM:259775
Fetal Akinesia Deformation Sequence
Arthrogryposis multiplex congenita, Camptodactyly of finger, Micrognathia, Multiple joint contrac... ORPHA:994
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Occipital encephalocele, Thoracic hypoplasia, Micromelia, Micrognathia, Bowing of ... OMIM:224410
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Low-set ears, Horseshoe kidney, Micrognathia, Ventricular septal defect, Metaphyseal chondrodyspl... ORPHA:166035
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Clinodactyly, Micrognathia, Vesicoureteral reflux, Patent ductus arteriosus aft... OMIM:618460
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Renal cyst, Postax... OMIM:611561
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Aplasia of the bladder, Horseshoe kidney, He... OMIM:612284
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Aortic valve stenosis, Low-set ears, Hearing impairment, Subluxati... ORPHA:536471
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Low-set ears, Short distal phalanx of finger, Horseshoe kidney, Micrognathia, Ventricular septal ... OMIM:250410
Joubert Syndrome 14
Low-set ears, Optic atrophy, Encephalocele, Ventricular septal defect, Postaxial polydactyly, Ren... OMIM:614424
Agnathia-Otocephaly Complex
Low-set ears, Microglossia, Secundum atrial septal defect, Tracheomalacia, Conductive hearing imp... OMIM:202650
Jacobsen Syndrome
Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Multicystic kidney dysplasia, Toe synd... ORPHA:2308
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Low-set ears, Renal hypoplasia, Hearing impairment, Microphallus, O... OMIM:618454
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Low-set ears, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Intestinal pseudo-... ORPHA:73246
Joubert Syndrome 35
Renal fibrosis, Pectus carinatum, Multicystic kidney dysplasia, Low-set ears, Recurrent urinary t... OMIM:618161
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Gout, Renal cyst OMIM:617056
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Low-set ears, Abnormal ilium morphology, Large fleshy ears, Micrognathia, Atrial septal defect, A... OMIM:614080
Congenital Alveolar Capillary Dysplasia
Abnormal vertebral morphology, Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal ... ORPHA:210122
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Rickets, Osteomalacia, Low-molecular-weigh... ORPHA:18
Smith-Lemli-Opitz Syndrome
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis media, Overlapping... OMIM:270400
Lethal Congenital Contracture Syndrome 1
Micrognathia, Abnormal thorax morphology, Widening of cervical spinal canal, Arthrogryposis multi... OMIM:253310
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Micrognathia, Hip contracture... OMIM:210710
Congenital Arthrogryposis With Anterior Horn Cell Disease
Low-set ears, Facial diplegia, Neonatal death, Short neck, Scoliosis, Kyphosis OMIM:611890
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Micrognathia, Ovarian cyst, Bilateral sensorineural hearing impairm... OMIM:614527
Renal Hypodysplasia/Aplasia 4
Bilateral renal agenesis, Pulmonary hypoplasia OMIM:619887
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Scoliosis, Kyphosis, Hearing impairment ORPHA:101078
2P15P16.1 Microdeletion Syndrome
Toe clinodactyly, Low-set ears, Multicystic kidney dysplasia, Optic atrophy, Optic nerve hypoplas... ORPHA:261349
Fraser Syndrome 1
Low-set ears, Atresia of the external auditory canal, Aplasia/Hypoplasia of the sternum, Abnormal... OMIM:219000
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Renal ... ORPHA:818
Renal Hypodysplasia/Aplasia 2
Bilateral renal agenesis, Pulmonary hypoplasia OMIM:615721
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Micrognathia, Ventricular septal defect, Cleft p... OMIM:615524
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis, Sensorineural hearing impairment OMIM:616756
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Sandal gap, Vertebral segmentation defect, Ventricular septal defect, Holoprosencep... OMIM:612530
Townes-Brocks Syndrome
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Hearing impairment, Atrial septal def... ORPHA:857
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Lop ear, Ventric... OMIM:107480
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Patent foramen ovale, Multiple prenatal fractures, Flexion co... OMIM:616867
Zellweger Syndrome
Optic atrophy, Multicystic kidney dysplasia, Epiphyseal stippling, Micrognathia, Ventricular sept... ORPHA:912
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
3-Methylglutaconic aciduria, Pulmonary hypoplasia OMIM:615228
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Low-set ears, Microretrognathia, Cupped ear, Clinodactyly, Down-sloping shoulders, Renal cyst, Sc... OMIM:615560
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Scoliosis, Kyphosis ORPHA:1548
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Hyperechogenic kidneys, Bell-shaped thorax, Megalopapilla... OMIM:615636
Stuve-Wiedemann Syndrome 1
Thin ribs, Low-set ears, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long b... OMIM:601559
Cranioectodermal Dysplasia 2
Low-set ears, Clinodactyly, Micrognathia, Short neck, Atrial septal defect, High palate, Patent d... OMIM:613610
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ... ORPHA:1112
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Ventricular septal defect, Radioulnar syn... OMIM:192350
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Proximal tubulopathy, Cardiomyopathy, Villous atrophy, Proteinuria, Renal cyst, Steat... OMIM:212065
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Contractures of the large joints, Preaxial hand polydactyly, Renal insufficiency, Ch... ORPHA:96179
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Posteriorly rotated ears, Kyphosis, Macrotia OMIM:618392
Alg9-Cdg
Low-set ears, Large fleshy ears, Micrognathia, Ventricular septal defect, Short neck, Broad ischi... ORPHA:79328
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Femoral bowing, Situs... OMIM:615415
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Joint hypermobility, High palate, Facial palsy, Scoliosis, Pulm... OMIM:255320
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Low-set ears, Osteopenia, Umbilical hernia, Sensorineural hearing impairment, Hiatus hernia, Rena... OMIM:610199
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Low-set ears, Abnormality of the ureter, Short neck, Hyperlordosis, Hypospadias, Kyphosis, Fused ... ORPHA:2522
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Low-set ears, Renal hypoplasia, Agenesis of pulmonary vessels, Horseshoe... OMIM:601186
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Low-set ears, Micrognathia, Hip contracture, Short neck, High palate, Spinal rigidity,... OMIM:620369
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts, Wide anterior fontanel OMIM:614883
Chromosome 13Q33-Q34 Deletion Syndrome
Hearing impairment, Overlapping toe, Micrognathia, Encephalocele, Anal atresia, High palate, Hypo... OMIM:619148
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Nephroblastoma, Kyphosis, Sacral dimple, Enlarged kidney OMIM:618272
Tonne-Kalscheuer Syndrome
Broad thumb, Velopharyngeal insufficiency, Abnormal heart morphology, Micrognathia, Brachydactyly... OMIM:300978
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Broad thumb, Toe syndactyly, Finger syndactyly, Abnormal helix morp... ORPHA:373
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
Axial Osteomalacia
Increased bone mineral density, Renal cyst, Osteomalacia OMIM:109130
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Inflammation of the large intestine, Bronchiectasis, Dilatation of the renal pelvi... OMIM:619708
Intellectual Developmental Disorder, Autosomal Dominant 23
Low-set ears, Hyperlordosis, Scoliosis, Hypospadias, Kyphosis, Sacral dimple OMIM:615761
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Multicystic kidney dysplasia, Pulmonary artery hypoplasia,... ORPHA:991
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Wide anterior fontanel, Cardiomyopathy, Abnormal he... ORPHA:26791
Peroxisome Biogenesis Disorder 1A (Zellweger)
Low-set ears, Abnormal helix morphology, Hearing impairment, Micrognathia, Bell-shaped thorax, Pr... OMIM:214100
Distal Deletion 12Q
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Overlapping toe, Micr... ORPHA:96149
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Renal agenesis,... ORPHA:139466
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Micrognathia, Anal atresia, Short foot, Preaxial hand polydact... ORPHA:93271
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Scoliosis, Kyphosis, Macrotia OMIM:619797
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Tetralogy of Fallot, Overlapping toe, Renal insufficiency, Ventricular septal defec... OMIM:617478
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Pulmonary hypoplasia, Cardiomyopathy, Lacticaciduria OMIM:619003
Chromosome 3Q13.31 Deletion Syndrome
Low-set ears, Alobar holoprosencephaly, Micropenis, Kyphosis, Macrotia OMIM:615433
Masa Syndrome
Hydrocephalus, Kyphosis, Hyperlordosis OMIM:303350
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Steinfeld Syndrome
Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Unilateral renal... OMIM:184705
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Multicystic kidney dysplasia, Abnormal femoral torsion, Abnormal right ventricle mo... ORPHA:500095
1P36 Deletion Syndrome
Sensorineural hearing impairment, Abnormal intestine morphology, Abnormality of the kidney, Foot ... ORPHA:1606
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bowing of the long... ORPHA:3103
Tetrasomy 5P
Low-set ears, Recurrent respiratory infections, Overlapping toe, Micrognathia, Short neck, Short ... ORPHA:3309
Congenital Myopathy 17
Low-set ears, Renal hypoplasia, Narrow chest, Pulmonary hypoplasia, Clinodactyly, Overlapping toe... OMIM:618975
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, H... OMIM:607361
Cloacal Exstrophy
Hydroureter, Ureterocele, Bladder exstrophy, Intestinal duplication, Abnormal tibia morphology, H... ORPHA:93929
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Wide anterior fontanel, Glyco... OMIM:231680
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Anorectal anomaly, Unilateral ... ORPHA:49
Trisomy 10P
Low-set ears, Gastroesophageal reflux, Abnormal auditory evoked potentials, Short toe, Thumb cont... ORPHA:171929
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Short neck, Spina bifida occulta, Hypoplasia of penis, Severe ... ORPHA:2983
Sandhoff Disease
Kyphosis, Hearing impairment ORPHA:796
Phelan-Mcdermid Syndrome
Gastroesophageal reflux, Hearing impairment, Macrotia, Micrognathia, Vesicoureteral reflux, Joint... OMIM:606232
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Branchial fistula, Sensorineural hea... OMIM:602588
22Q11.2 Deletion Syndrome
Low-set ears, Hearing impairment, Micrognathia, Ventricular septal defect, Arachnodactyly, Short ... ORPHA:567
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Thoracic hypoplasia, Upper limb undergrowth OMIM:613124
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Narrow palate, Tapered toe, Dilated cardiomyopathy, Elbow flexion contracture, Rena... OMIM:608836
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Renal Agenesis, Bilateral
Low-set ears, Renal agenesis, Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistu... ORPHA:1848
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... OMIM:145001
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney... OMIM:173900
Alagille Syndrome 1
Low-set ears, Ventricular septal defect, Atrial septal defect, Duplicated collecting system, Rena... OMIM:118450
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal cyst, Neoplas... ORPHA:480536
Joubert Syndrome With Hepatic Defect
Nephropathy, Low-set ears, Multicystic kidney dysplasia, Occipital encephalocele, Optic disc colo... ORPHA:1454
Sialidosis Type 2
Nephropathy, Kyphosis, Hearing impairment, Umbilical hernia ORPHA:87876
Cardiospondylocarpofacial Syndrome
Low-set ears, Carpal synostosis, Recurrent otitis media, Ventricular septal defect, Enlarged vest... OMIM:157800
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Micrognathia, Glue ear, Abnormal m... ORPHA:3310
Transketolase Deficiency
Increased level of ribose in urine, Hearing impairment, Abnormal heart morphology, Patent foramen... ORPHA:488618
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Autosomal Recessive Spastic Paraplegia Type 53
Abnormal auditory canal morphology, Kyphosis, Hearing impairment ORPHA:319199
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Hearing impairment, Scoliosis, Kyphosis ORPHA:99014
Saethre-Chotzen Syndrome
Low-set ears, Broad thumb, Finger syndactyly, Hearing impairment, Prominent crus of helix, Abnorm... ORPHA:794
Crouzon Syndrome
Optic atrophy, Conductive hearing impairment, Hearing impairment, Multiple suture craniosynostosi... ORPHA:207
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Abnormal helix morphology, Abnormal heart morpholog... OMIM:214110
Meier-Gorlin Syndrome 3
Low-set ears, Narrow chest, Gastroesophageal reflux, Microretrognathia, Tracheomalacia, Slender l... OMIM:613803
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Scimitar Syndrome
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Patent ductus ar... ORPHA:185
Distal Deletion 15Q
Low-set ears, Small hand, Multicystic kidney dysplasia, Hearing impairment, Genu valgum, Microgna... ORPHA:1596
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Optic atrophy, Abnormal helix morphology, Hearing impairment, Epiphyseal stippling,... OMIM:614866
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Occipital encephalocele, Atresia of the external auditory canal, Un... OMIM:164210
Matthew-Wood Syndrome
Low-set ears, Renal hypoplasia, Duodenal stenosis, Horseshoe kidney, Vesicoureteral reflux, Abnor... ORPHA:2470
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Renal cyst, Hypospadias, Syndactyly OMIM:605231
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Proximal tubulopathy, Villous atrophy, Renal cyst, Steatorrhea OMIM:602579
Restrictive Dermopathy
Thin ribs, Low-set ears, Increased anterioposterior diameter of thorax, Micrognathia, Large place... ORPHA:1662
Restrictive Dermopathy 1
Low-set ears, Increased anterioposterior diameter of thorax, Micrognathia, Atrial septal defect, ... OMIM:275210
Winchester Syndrome
Kyphosis OMIM:277950
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Hearing impairment, Abnormal autonomic nervous system physiology, Scoliosis, Kyphosis OMIM:610743
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hearing impairment, Micrognathia, Patellar aplasia, Hip contracture... OMIM:606170
Mucopolysaccharidosis, Type Iva
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Hearing impairment, Chond... OMIM:253000
Joubert Syndrome 2
Low-set ears, Postaxial foot polydactyly, Nephronophthisis, Optic disc coloboma, Renal insufficie... OMIM:608091
Meckel Syndrome, Type 1
Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Abnormality of t... OMIM:249000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Pulmonary hypoplasia, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplas... OMIM:615503
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u... ORPHA:2973
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... ORPHA:1686
Williams Syndrome
Synostosis of joints, Genu valgum, Micrognathia, Mitral valve prolapse, Ventricular septal defect... ORPHA:904
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Aganglionic megacolon... ORPHA:261222
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Hearing impairment, Duodenal atresia, Abnormal lung lobation, Low-s... ORPHA:1052
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Protruding ear, Scoliosis, Kyphosis ORPHA:85317
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Epiphyseal stippling, Hyperoxaluria, Sensorineural hearing impairment, Renal cyst OMIM:601539
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormal form of the vertebral bodies, Hearing impairment, Horseshoe k... ORPHA:3109
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, Multiple ... OMIM:616866
Urban-Rogers-Meyer Syndrome
Aplasia/Hypoplasia of the earlobes, Abnormality of the ureter, Short neck, Overfolded helix, Hypo... ORPHA:3409
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Gastroesophageal ... OMIM:613177
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Dark urine, Renal cyst, Steatorrhea, Fat malabsorption ORPHA:79303
Spastic Paraplegia 46, Autosomal Recessive
Urinary incontinence, Scoliosis, Kyphosis, Hearing impairment OMIM:614409
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Pulmonary hypoplasia, Renal dysplasia, Intestinal malrotation, Stage 5 chr... OMIM:208540
Ck Syndrome
Kyphosis, Posteriorly rotated ears, Scoliosis, Hyperlordosis OMIM:300831
Pendred Syndrome
Nephropathy, Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality... ORPHA:705
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Optic atrophy, Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Epidermal Nevus Syndrome
Osteopenia, Polycystic kidney dysplasia, Thoracolumbar scoliosis, Spinal canal stenosis ORPHA:35125
Joubert Syndrome 1
Nephropathy, Low-set ears, Postaxial foot polydactyly, Clinodactyly, Optic disc coloboma, Occipit... OMIM:213300
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Scoliosis, Kyphosis ORPHA:79327
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c... ORPHA:50815
Yunis-Varon Syndrome
Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Micrognathia, Decr... ORPHA:3472
Fraser Syndrome
Abnormality of the outer ear, Toe syndactyly, Finger syndactyly, Atresia of the external auditory... ORPHA:2052
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Microphthalmia, Syndromic 1
Low-set ears, Joint contracture of the hand, Clinodactyly, Hearing impairment, Recurrent otitis m... OMIM:309800
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Peters Plus Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Renal hypoplasia/aplasia, Short neck,... ORPHA:709
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Cardiomyopathy, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, P... ORPHA:445038
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Genu valgum, Micrognathia, Hematuria, Proximal renal tubular acidosis, Hip dislocat... ORPHA:534
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
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Protruding ear, Scoliosis, Kyphosis, Macrotia ORPHA:2471
Oncogenic Osteomalacia
Abnormal vertebral morphology, Renal phosphate wasting, Pathologic fracture, Abnormality of the t... ORPHA:352540
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Postaxial foot polydactyly, Stage 5 chronic ... OMIM:267010
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Pulmonary hypoplasia, Hydroureter, Mesoaxial hand polydactyly, Hydron... OMIM:236700
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Low-set ears, Short neck, Scoliosis, Kyphosis ORPHA:178148
Orofaciodigital Syndrome I
Low-set ears, Clinodactyly, Hearing impairment, Ankyloglossia, Ovarian cyst, High palate, Polycys... OMIM:311200
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Abnormal antihelix morphology,... ORPHA:3082
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Epiphyseal stippling OMIM:614862
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
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
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Coronal craniosynostosis, Pyloric stenosis, Pulmonary hypoplasia, Low-set ears, Overla... ORPHA:83617
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Dextrocardia, Patent ... OMIM:618280
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup... ORPHA:79404
Limb Body Wall Complex
Progressive congenital scoliosis, Cutaneous finger syndactyly, Aplasia/hypoplasia involving bones... ORPHA:2369
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Low-set ears, Unilateral renal agenesis, Hearing impairment, Vesicoureteral reflux, Posteriorly r... OMIM:619951
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Low-set, posteriorly rotated ears, Narrow internal auditory canal, Situs inversus t... ORPHA:990
Neu-Laxova Syndrome
Osteopenia, Bifid uvula, Rickets, Micromelia, Osteomalacia, Macrotia, Micrognathia, Submucous cle... ORPHA:2671
Hemifacial Atrophy, Progressive
Horner syndrome, Kyphosis, Microtia OMIM:141300
D-Bifunctional Protein Deficiency
Low-set ears, Osteopenia, Thoracic hypoplasia, Hearing impairment, Decreased nerve conduction vel... OMIM:261515
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nephrolithiasis, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity ORPHA:352447
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Protruding ear, Scoliosis, Kyphosis OMIM:300861
Ogden Syndrome
Low-set ears, Recurrent otitis media, Micrognathia, Ventricular septal defect, Pulmonary edema, B... OMIM:300855
Thauvin-Robinet-Faivre Syndrome
Long hallux, Bifid ureter, Nephroblastoma, Mitral valve prolapse, Ventricular septal defect, Rena... OMIM:617107
Arima Syndrome
Optic atrophy, Postaxial foot polydactyly, Nephronophthisis, Stage 5 chronic kidney disease, Occi... OMIM:243910
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Micrognathia, Reduced bone miner... ORPHA:1556
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Multicystic kidney dysplasia, Atresia of the external auditory canal,... ORPHA:199
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Hearing impairment, Preaxial hand polydactyly, Narrow inte... ORPHA:233
Proteus Syndrome
Low-set ears, Rib exostoses, Pulmonary cyst, Finger syndactyly, Exostosis of the external auditor... ORPHA:744
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Unilateral renal agenesis, Absence of the sacrum, Neonatal death, ... OMIM:615709
Lymphangioleiomyomatosis
Optic atrophy, Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Emp... ORPHA:538
Intellectual Developmental Disorder, Autosomal Dominant 26
Low-set ears, Scoliosis, Kyphosis, Umbilical hernia OMIM:615834
Mesomelia-Synostoses Syndrome
Abnormal vertebral morphology, Metacarpal synostosis, Tarsometatarsal synostosis, Mesomelia, Micr... OMIM:600383
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Conductive hearing impairment, Renal agenesis, Preaxial hand polyda... ORPHA:1297
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Scoliosis, Kyphosis, Sensorineural hearing impairment ORPHA:464282
Usher Syndrome Type 1
Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231169
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Pulmonary hypoplasia OMIM:614096
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
3Mc Syndrome 2
Abnormal vertebral morphology, Caudal appendage, Abnormality of the vertebral column, Hearing imp... OMIM:265050
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Hearing impairment, Horseshoe ... ORPHA:93111
Kabuki Syndrome 1
Abnormal vertebral morphology, Low-set ears, Anoperineal fistula, Hearing impairment, Recurrent o... OMIM:147920
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Finger syndactyly, Hearing impairment, Micrognathia, Foot polydacty... ORPHA:2750
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Scoliosis, Kyphosis, Umbilical hernia ORPHA:352490
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia, Micrognathia, Arthrogryposis multiplex congenita, Short thorax OMIM:601809
Thanatophoric Dysplasia Type 2
Platyspondyly, Hearing impairment, Encephalocele, Hydrocephalus, Abnormality of the kidney, Holop... ORPHA:93274
Renal Hypodysplasia/Aplasia 1
Low-set ears, Bilateral renal agenesis, Proteinuria, Renal dysplasia, Pulmonary hypoplasia OMIM:191830
Emanuel Syndrome
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Hearing impairment, Recurrent urinary ... OMIM:609029
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Diaphragmatic Hernia 4, With Cardiovascular Defects
Low-set ears, Pulmonary artery hypoplasia, Optic nerve hypoplasia, Finger syndactyly, 11 pairs of... OMIM:620025
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Oeis Complex
Duplicated collecting system, Anal atresia, Rectovaginal fistula, Vesicovaginal fistula, Epispadi... OMIM:258040
Baralle-Macken Syndrome
Urinary incontinence, Kyphosis OMIM:619255
Fetal Akinesia Deformation Sequence 1
Thin ribs, Low-set ears, Micrognathia, Hip contracture, Short neck, Elbow ankylosis, High palate,... OMIM:208150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia, Intestinal m... ORPHA:2241
Neu-Laxova Syndrome 1
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Mic... OMIM:256520
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency,... ORPHA:228308
Microphthalmia, Lenz Type
Hydroureter, Hearing impairment, Optic disc coloboma, Low-set, posteriorly rotated ears, Renal hy... ORPHA:568
Shashi-Pena Syndrome
Low-set ears, Unilateral renal agenesis, Cupped ear, Cervical C2/C3 vertebral fusion, Posteriorly... OMIM:617190
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Re... OMIM:219730
C Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Limitation of joint mobility, Micromelia, Hypoplasi... ORPHA:1308
Sialidosis Type 1
Aminoaciduria, Abnormal form of the vertebral bodies, Urinary excretion of sialylated oligosaccha... ORPHA:812
Alpha-Mannosidosis
Abnormal helix morphology, Hearing impairment, Short neck, Chronic otitis media, Scoliosis, Kypho... ORPHA:61
15Q24 Microdeletion Syndrome
Abnormality of the outer ear, Hearing impairment, Microphallus, Myelomeningocele, Scoliosis, Hypo... ORPHA:94065
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atre... ORPHA:63260
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Van Maldergem Syndrome 2
Clinodactyly, Hearing impairment, Atresia of the external auditory canal, Cutaneous finger syndac... OMIM:615546
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Protein-losing enteropathy, Acute kidney injury, Oliguria, Gastrointestinal hemorrh... ORPHA:731
Joubert Syndrome 39
Hypoplastic left heart, Occipital encephalocele, Joint contracture of the 5th finger, Postaxial p... OMIM:619562
3C Syndrome
Low-set ears, Optic atrophy, Death in infancy, Hydronephrosis, Short neck, Hydrocephalus, Hemiver... ORPHA:7
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormality of the outer ear, Finger syndactyly, M... ORPHA:2753
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Kyphosis, Hyperlordosis, Polycystic ovaries ORPHA:3085
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Tetraamelia Syndrome 1
Low-set ears, Abnormal clavicle morphology, Renal agenesis, Abnormal scapula morphology, Hypoplas... OMIM:273395
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:2617
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Reduced re... OMIM:618733
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Aortic valve stenosis, Abnormal cardiac ventricle morphology,... ORPHA:2306
Campomelia, Cumming Type
Bowing of the long bones, Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Abnormal form of the vertebral bodies, Atresia of th... ORPHA:2789
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormality of the cervical spine, Scoliosis, Kyphosis ORPHA:48431
Meacham Syndrome
Hypoplastic left heart, Pulmonary hypoplasia, Horseshoe kidney, Tetralogy of Fallot, Scimitar ano... OMIM:608978
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Branchiooculofacial Syndrome
Low-set ears, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Short neck, Hyp... OMIM:113620
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatous colonic polyposis OMIM:617100
Yunis-Varon Syndrome
Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Micrognat... OMIM:216340
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Low-set ears, Abnormal pinna morphology, Kyphosis ORPHA:77300
Roberts-Sc Phocomelia Syndrome
Low-set ears, Clinodactyly, Micrognathia, Ventricular septal defect, Short neck, Abnormal metacar... OMIM:268300
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Hearing impairment, Chond... OMIM:253010
Meckel Syndrome
Optic atrophy, Multicystic kidney dysplasia, Postaxial foot polydactyly, Aplasia/Hypoplasia of th... ORPHA:564
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Scoliosis, Kyphosis, Umbilical hernia ORPHA:2181
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Low-set ears, Carpal synostosis, Micr... OMIM:218600
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epi... ORPHA:157
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Hearing impairment, Low-se... ORPHA:628
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Micropenis, Abnormal pinna morphology, Hypospadias, Kyphosis OMIM:300354
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Chronic kidney disease, Inflammation of the large intes... ORPHA:110
Lateral Meningocele Syndrome
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Umbilical he... OMIM:130720
Lethal Congenital Contracture Syndrome 9
Low-set ears, Joint contracture of the hand, Congenital contracture, Micrognathia, Short umbilica... OMIM:616503
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Kyphosis OMIM:230650
Frank-Ter Haar Syndrome
Umbilical hernia, Protruding ear, Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatous colonic polypos... ORPHA:220460
Fontaine Progeroid Syndrome
Low-set ears, Micrognathia, Protruding tongue, Bicuspid aortic valve, Atrial septal defect, Paten... OMIM:612289
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Aplasia/Hypoplasia of the earlobes, Abnormal form of the vertebral bodies, Abnormal antihelix mor... ORPHA:2916
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Congenital Diaphragmatic Hernia
Intestinal malrotation, Prominent sternum, Pulmonary hypoplasia ORPHA:2140
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ... OMIM:156530
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Osteomalacia, Renal insufficie... OMIM:600740
X-Linked Intellectual Disability Due To Gria3 Mutations
Hydronephrosis, Uplifted earlobe, Micropenis, Scoliosis, Kyphosis, Macrotia ORPHA:364028
Schaaf-Yang Syndrome
Micropenis, Low-set ears, Scoliosis, Kyphosis OMIM:615547
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Von Hippel-Lindau Disease
Cardiomyopathy, Vertigo, Elevated urinary catecholamine level, Papilledema, Multiple renal cysts,... ORPHA:892
Micro Syndrome
Optic atrophy, Kyphosis, Low-set, posteriorly rotated ears, Hydronephrosis, Abnormal localization... ORPHA:2510
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Sensorineural hearing impairment OMIM:616455
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Aspirat... ORPHA:52368
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Wieacker-Wolff Syndrome, Female-Restricted
Low-set ears, Short neck, Posteriorly rotated ears, Urinary incontinence, Facial palsy, Scoliosis... OMIM:301041
Ullrich Congenital Muscular Dystrophy
Short neck, Scoliosis, Kyphosis, Spinal rigidity ORPHA:75840
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Small hand, Micrognathia, Ventricular septal defect, Sagittal craniosyn... OMIM:145420
Thoracoabdominal Syndrome
Renal agenesis, Anencephaly, Transposition of the great arteries, Hydrocephalus, Ectopia cordis, ... OMIM:313850
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Hearing impairment, Renal insufficiency, Renal hypopla... ORPHA:261265
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Low-set ears, Renal dysplasia, Mitral stenosis, Renal cyst, Posteriorly rotated ears, Patent duct... OMIM:617260
Koolen-De Vries Syndrome
Vesicoureteral reflux, Overfolded helix, Renal duplication, Vertebral segmentation defect, Ureter... ORPHA:96169
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Hearing impairment, Recurrent otitis media, Lumbar hyperlordosis, Neonatal death, ... OMIM:616482
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithi... ORPHA:99880
Myopathy, Centronuclear, 2
Kyphosis, Facial palsy, Scoliosis, Hyperlordosis OMIM:255200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis OMIM:607155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Facial palsy, Scoliosis, Kyphosis OMIM:606612
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Microcolon, Pulmonary hypoplasia, Anuria, Megacystis, Ileal atr... OMIM:619351
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Atlantoaxial instability,... OMIM:183900
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Micrognathia, Renal cortical cysts, Vesicoureteral reflux, Uplifted earlobe, Pectus excavatum, Sc... OMIM:618548
Immunodeficiency 96
Recurrent otitis media, Multicystic kidney dysplasia OMIM:619774
Parathyroid Carcinoma
Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithi... ORPHA:143
Pallister-Killian Syndrome
Aortic valve stenosis, Low-set ears, Small hand, Postaxial foot polydactyly, Hearing impairment, ... OMIM:601803
Alkaptonuria
Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Interverteb... OMIM:203500
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
4Q21 Microdeletion Syndrome
Low-set ears, Hearing impairment, Short neck, Scoliosis, Kyphosis ORPHA:238750
Coffin-Lowry Syndrome
Narrow palate, Bifid sternum, Pectus carinatum, Kyphosis, Hearing impairment, Rectal prolapse, Se... OMIM:303600
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Hydroureter, Polydactyly, Hydronephrosis, Postaxial hand polydactyly,... OMIM:615989
Mucopolysaccharidosis Type 4
Platyspondyly, Hearing impairment, Spinal canal stenosis, Short neck, Mucopolysacchariduria, Hype... ORPHA:582
Achondroplasia
Thoracolumbar kyphosis, Hearing impairment, Cervical spinal canal stenosis, Functional abnormalit... ORPHA:15
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Kyphoscoliosis, Scoliosis, Posteriorly rotated ears, Kyphosis OMIM:300280
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Scoliosis, Kyphosis, Sensorineural hearing impairment ORPHA:79107
Aspartylglucosaminuria
Abnormal vertebral morphology, Pectus carinatum, Umbilical hernia, Joint stiffness, Aspartylgluco... ORPHA:93
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:618484
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Renal agenesis, Umbilical hernia, Kyphoscoliosis, Hydronephrosis, Sensorineural hea... OMIM:301040
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis ORPHA:816
19P13.12 Microdeletion Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Short neck, Abnorm... ORPHA:254346
Syndromic Diarrhea
Renal hypoplasia, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of F... ORPHA:84064
Treacher-Collins Syndrome
Conductive hearing impairment, Abnormality of the vertebral column, Branchial fistula, Narrow int... ORPHA:861
Congenital Disorder Of Glycosylation, Type If
Optic atrophy, Flexion contracture, Renal cortical cysts, Wide anterior fontanel OMIM:609180
Bruck Syndrome 1
Platyspondyly, Vertebral wedging, Hearing abnormality, Scoliosis, Kyphosis OMIM:259450
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity OMIM:615084
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Mucopolysaccharidosis Type 6
Hearing impairment, Short neck, Mucopolysacchariduria, Chronic otitis media, Kyphosis, Ovoid vert... ORPHA:583
Von Hippel-Lindau Syndrome
Vertigo, Sensorineural hearing impairment, Tinnitus, Multiple renal cysts, Pulmonary capillary he... OMIM:193300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal pinna morphology, Sacral dimple OMIM:618291
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Hematuria, Abnormal localization of kidney, Scoliosis, K... ORPHA:3121
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Kyphosis OMIM:618124
Crisponi Syndrome
Scoliosis, Kyphosis, Death in infancy ORPHA:1545
Arthrogryposis, Distal, Type 5
Protruding ear, Scoliosis, Kyphosis OMIM:108145
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
3M Syndrome
Hypospadias, Increased vertebral height, Protruding ear, Short neck, Hyperlordosis, Scoliosis, Ky... ORPHA:2616
Mucopolysaccharidosis, Type Ii
Hearing impairment, Umbilical hernia, Recurrent otitis media, Heparan sulfate excretion in urine,... OMIM:309900
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Glandular hypospadias, Cardiomegaly, Pneumothorax, Short femur, Pulmonary hypoplasia OMIM:620306
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
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Short neck, Scoliosis, Kyphosis ORPHA:3191
Mody
Nephropathy, Glycosuria, Renal cyst, Abnormality of the kidney, Hepatocellular adenoma ORPHA:552
Trisomy 9P
Macrotia, Protruding ear, Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis OMIM:617821
Fountain Syndrome
Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Spina bifida, Spina bifi... ORPHA:3219
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Progressive sensorineural hearing impairment, Abnormal heart morpholog... ORPHA:2237
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Pulmonary lymphangio... ORPHA:805
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Histiocytoid Cardiomyopathy
Optic atrophy, Ventricular septal defect, Pulmonary edema, Renal cyst, Cardiomegaly, Polycystic o... ORPHA:137675
Mucolipidosis Iii Gamma
Short neck, Mucopolysacchariduria, Hyperlordosis, Scoliosis, Kyphosis OMIM:252605
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
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
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis OMIM:619362
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis OMIM:617435
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Kyphosis, Sensorineural hearing impairment ORPHA:1883
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypospadias, Multicystic kidney dysplasia, Unilateral renal agenesis, Recurrent upper respiratory... OMIM:308205
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, Hydronephrosis, Uplifted earlobe, Scoliosis, Hypospadias, Kyphosis OMIM:616449
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Tuberous Sclerosis 2
Hearing impairment, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Re... OMIM:613254
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Mpdu1-Cdg
Optic atrophy, Renal cortical cysts, Absence of acoustic reflex, Wide anterior fontanel ORPHA:79323
Beckwith-Wiedemann Syndrome
Nephropathy, Hearing impairment, Abnormal earlobe morphology, Large placenta, Hepatoblastoma, Hyp... ORPHA:116
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis, Hearing impairment OMIM:151800
Wieacker-Wolff Syndrome
Low-set ears, Short neck, Hyperlordosis, Facial palsy, Scoliosis, Kyphosis OMIM:314580
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Scoliosis, Hyperlordosis, Kyphoscoliosis ORPHA:536516
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Epiphyseal stippling, Arthrogryposis multiplex congenita, Short m... ORPHA:86822
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Long hallux, Genu va... ORPHA:261537
Stickler Syndrome, Type I
Platyspondyly, Conductive hearing impairment, Spondylolisthesis, Morbus Scheuermann, Sensorineura... OMIM:108300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Kyphosis OMIM:618138
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of the urinary system, Hearing impairment, Scoliosis, Kyphosis ORPHA:702
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Scoliosis, Kyphosis ORPHA:2047
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Mowat-Wilson Syndrome
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Genu valgum, Sensori... ORPHA:2152
Gaucher Disease, Perinatal Lethal
Low-set ears, Thoracic hypoplasia, Micrognathia, Cardiomegaly, Dysphagia, Microtia, Arthrogryposi... OMIM:608013
Campomelic Dysplasia
Low-set ears, Hearing impairment, Hydronephrosis, Short neck, Poorly ossified cervical vertebrae,... ORPHA:140
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Congenital Myopathy 22A, Classic
Neonatal death, Thoracic scoliosis, Normal pressure hydrocephalus, Scoliosis, Kyphosis, Spinal ri... OMIM:620351
Hurler Syndrome
Hypoplasia of the odontoid process, Hearing impairment, Umbilical hernia, Recurrent otitis media,... OMIM:607014
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Hearing impairment, Lumbar hyperlordosis, Short neck, Cervical instabili... ORPHA:94068
Mosaic Trisomy 20
Hearing impairment, Spinal canal stenosis, Horseshoe kidney, Vertebral segmentation defect, Abnor... ORPHA:1724
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Thanatophoric Dysplasia Type 1
Platyspondyly, Hearing impairment, Abnormal sacroiliac joint morphology, Hydrocephalus, Abnormali... ORPHA:1860
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Macrotia, Vesicoureteral reflux, Spondylolisthesis, Overfolde... OMIM:610443
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Typical Nemaline Myopathy
Facial diplegia, Short neck, Hyperlordosis, Facial palsy, Scoliosis, Kyphosis, Spinal rigidity ORPHA:171436
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Microretrognathia, Pulmonary artery atresia, Tracheomalacia, Atelectasis, Patent... OMIM:620371
Arthrogryposis, Distal, Type 4
Lumbar scoliosis, Scoliosis, Kyphosis, Hypoplastic helices OMIM:609128
Brown-Vialetto-Van Laere Syndrome 1
Hearing impairment, Death in childhood, Sensorineural hearing impairment, Facial palsy, Scoliosis... OMIM:211530
Atypical Rett Syndrome
Scoliosis, Kyphosis, Abnormal autonomic nervous system physiology ORPHA:3095
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis ORPHA:64755
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal helix morphology, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Vert... ORPHA:1005
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Long hallux, Genu va... ORPHA:261552
Ullrich Congenital Muscular Dystrophy 1A
Protruding ear, Facial palsy, Scoliosis, Kyphosis, Spinal rigidity OMIM:254090
Gm1-Gangliosidosis, Type I
Abnormality of the urinary system, Death in infancy, Hypoplastic vertebral bodies, Short neck, Be... OMIM:230500
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Scoliosis, Kyphosis OMIM:609541
Hurler-Scheie Syndrome
Umbilical hernia, Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Scolio... OMIM:607015
Fucosidosis
Anterior beaking of lumbar vertebrae, Mucopolysacchariduria, Kyphosis, Hearing impairment ORPHA:349
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3098
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Truncus Arteriosus
Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery hypoplasia, Abnormal lung... ORPHA:3384
Tuberous Sclerosis 1
Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Renal cell... OMIM:191100
Pearson Syndrome
Glycosuria, Cardiomyopathy, Hearing impairment, Abnormal heart morphology, Renal insufficiency, M... ORPHA:699
Pelger-Huet Anomaly
Recurrent otitis media, Kyphosis, Umbilical hernia OMIM:169400
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Abnormal antihelix morphology, Scoliosis, Kyphosis ORPHA:261144
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Low-set ears, Protruding ear, Thoracolumbar scoliosis, Hyperlordosis, Scoliosis, Kyphosis OMIM:618443
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hearing impairment, Hydrocephalus, Micropenis, Scoliosis, Kyphosis ORPHA:500055
Srd5A3-Cdg
Optic atrophy, Abnormal sacrum morphology, Kyphosis ORPHA:324737
Ruvalcaba Syndrome
Scoliosis, Kyphosis OMIM:180870
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment, Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
X-Linked Intellectual Disability, Cabezas Type
Abnormal earlobe morphology, Short neck, Hypoplasia of penis, Scoliosis, Kyphosis ORPHA:85293
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Biconcave vertebral bodies, Hearing impairment OMIM:259420
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies, Nephrolithiasis OMIM:219090
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Cleft palate, Submucous cleft hard palate, Pulmonary hypoplasia ORPHA:250999
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Low-set ears, Scoliosis, Kyphosis ORPHA:261190
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of ... OMIM:603546
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis ORPHA:2771
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Low-set ears, Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Prominent crus of... OMIM:619194
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Facial palsy, Scoliosis, Hyperlordosis OMIM:181405
Dpagt1-Cdg
Optic atrophy, Clinodactyly, Hearing impairment, Diffuse optic disc pallor, Arachnodactyly, Campt... ORPHA:86309
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis, Sensorineural hearing impairment OMIM:615381
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Short neck, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:98863
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration ORPHA:95433
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Overfolded helix, Scoliosis, Kyphosis, Macrotia OMIM:617061
Jaberi-Elahi Syndrome
Low-set ears, Optic atrophy, Protruding ear, Scoliosis, Kyphosis OMIM:617988
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Horse... ORPHA:508533
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:98855
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hearing impairment, Sensorineural hearing impairment, Hypercalciuria, Increase... OMIM:239000
Gm1 Gangliosidosis
Platyspondyly, Low-set ears, Optic atrophy, Abnormal form of the vertebral bodies, Hyperlordosis,... ORPHA:354
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Facial palsy, Scoliosis, Hyperlordosis OMIM:128100
Cockayne Syndrome Type 2
Scoliosis, Kyphosis, Hearing impairment, Macrotia ORPHA:90322
Desbuquois Dysplasia 1
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:251450
Schwartz-Jampel Syndrome
Platyspondyly, Abnormality of the urinary system, Umbilical hernia, Low-set, posteriorly rotated ... ORPHA:800
Autosomal Recessive Ataxia, Beauce Type
Urinary incontinence, Scoliosis, Kyphosis ORPHA:88644
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Low-set ears, Hearing impairment, Macrotia, Prominent protruding coccyx, Protruding ear, Short ne... OMIM:300966
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low-set ears, Scoliosis, Kyphosis ORPHA:404440
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Conductive hearing i... ORPHA:90324
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Kyphosis, Thoracic scoliosis OMIM:603387
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Cardiomyopathy, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Ne... OMIM:130650
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Kyphoscoliosis, Abnormal curvature of the vertebral column... ORPHA:93360
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:98853
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncu... ORPHA:980
Cerebrofacioarticular Syndrome
Osteopenia, Renal hypoplasia, Anal stenosis, Caudal appendage, Tracheomalacia, Anteriorly placed ... ORPHA:314679
Mend Syndrome
Low-set ears, Crossed fused renal ectopia, Hydrocephalus, Overfolded helix, Posteriorly rotated e... OMIM:300960
Coffin-Lowry Syndrome
Optic atrophy, Abnormal form of the vertebral bodies, Death in early adulthood, Sensorineural hea... ORPHA:192
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, Male urethral meatus stenosis, Hydronephrosis, Scoliosis, Hypospadias, Kyphosis ORPHA:464738
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, Kyphosis, Sensorineural hearing impairment OMIM:609944
Cdags Syndrome
Rectourethral fistula, Hypospadias, Kyphosis, Sensorineural hearing impairment OMIM:603116
Myasthenic Syndrome, Congenital, 20, Presynaptic
Facial palsy, Scoliosis, Kyphosis OMIM:617143
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Joubert Syndrome 5
Nephronophthisis, Occipital encephalocele, Stage 5 chronic kidney disease, Renal cortical cysts, ... OMIM:610188
Cole-Carpenter Syndrome
Communicating hydrocephalus, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
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
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Optic atrophy, Hearing impairment, Cervical spinal canal stenosis, Recurrent urinary... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Optic atrophy, Hearing impairment, Cervical spinal canal stenosis, Recurrent urinary... ORPHA:363958
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Hearing impairment, Protruding ear, Absent earlobe, Scoliosis, Kyphosis OMIM:619557
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Optic atrophy, Hydrocephalus, Kyphosis OMIM:618476
Robinow Syndrome, Autosomal Dominant 3
Low-set ears, Hearing impairment, Vesicoureteral reflux, Short neck, Micropenis, Scoliosis, Kypho... OMIM:616894
Cowden Syndrome 5
Scoliosis, Kyphosis, Ovarian cyst, Hearing impairment OMIM:615108
X-Linked Intellectual Disability, Snyder Type
Low-set ears, Hypospadias, Small earlobe, Cupped ear, Asymmetry of the ears, Kyphoscoliosis, Thic... ORPHA:3063
Marinesco-Sjogren Syndrome
Scoliosis, Kyphosis OMIM:248800
Cono-Spondylar Dysplasia
Low-set ears, Short neck, Scoliosis, Kyphosis ORPHA:420794
Mucolipidosis Iii Alpha/Beta
Kyphosis, Mucopolysacchariduria, Scoliosis, Spondylolisthesis OMIM:252600
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... ORPHA:2062
16Q24.3 Microdeletion Syndrome
Kyphosis, Hearing impairment, Protruding ear, Scoliosis, Chronic otitis media, Optic nerve hypopl... ORPHA:261250
Caroli Disease
Polycystic kidney dysplasia, Cholangiocarcinoma, Esophageal varix ORPHA:53035
Cole-Carpenter Syndrome 2
Platyspondyly, Hydrocephalus, Kyphosis OMIM:616294
Monosomy 9Q22.3
Low-set ears, Abnormality of the vertebral column, Umbilical hernia, Nephroblastoma, Short neck, ... ORPHA:77301
Intellectual Developmental Disorder, Autosomal Dominant 73
Low-set ears, Hydroureter, Conductive hearing impairment, Recurrent otitis media, Lumbar hyperlor... OMIM:620450
Megalocornea-Intellectual Disability Syndrome
Protruding ear, Scoliosis, Kyphosis, Sensorineural hearing impairment ORPHA:2479
Cowden Syndrome 6
Scoliosis, Kyphosis, Ovarian cyst, Hearing impairment OMIM:615109
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Micropenis, Hypospadias, Scoliosis, Kyphosis OMIM:619718
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Pmm2-Cdg
Platyspondyly, Osteopenia, Nephrotic syndrome, Aspiration pneumonia, Hypertrophic cardiomyopathy,... ORPHA:79318
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Hypospadias, Optic atrophy, Abnormality of the urinary system, Abn... ORPHA:280
Spondyloperipheral Dysplasia
Platyspondyly, Sensorineural hearing impairment, Short neck, Kyphosis, Ovoid vertebral bodies, Ir... OMIM:271700
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Mild conductive hearing impairment, Hyperlordosis, Scoliosis, K... ORPHA:763
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Scoliosis, Kyphosis OMIM:617602
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Scoliosis, Kyphosis ORPHA:88628
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... OMIM:223800
Multiple Pterygium-Malignant Hyperthermia Syndrome
Posteriorly rotated ears, Scoliosis, Kyphosis, Conductive hearing impairment ORPHA:2215
Spondyloenchondrodysplasia
Platyspondyly, Chronic kidney disease, Hematuria, Proteinuria, Kyphosis ORPHA:1855
Caroli Syndrome
Hematemesis, Cholangiocarcinoma, Abnormality of the kidney, Melena, Polycystic kidney dysplasia, ... ORPHA:480520
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Hearing impairment, Intestinal lymphangiectasia, Pulmonary lymphangiectasia, Camptodactyly, Osteo... OMIM:616006
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Micropenis, Scoliosis, Kyphosis, Death in childhood OMIM:619005
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Kyphoscoliosis, Micropenis, Communicatin... ORPHA:457359
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Low-set ears, Posteriorly rotated ears, Hyperlordosis, Communicating hydrocephalus, Scoliosis, Ky... OMIM:617011
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Hyperlordosis, Elevated urinary epinephrine level, Scoliosis, Kyphosis OMIM:162300
Alexander Disease
Short neck, Hyperlordosis, Hydrocephalus, Abnormal autonomic nervous system physiology, Aqueducta... ORPHA:58
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... OMIM:133540
Noonan Syndrome 14
Low-set ears, Short neck, Posteriorly rotated ears, Kyphosis OMIM:619745
Cowden Syndrome 1
Scoliosis, Kyphosis, Ovarian cyst, Hearing impairment OMIM:158350
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Low-set ears, Kyphosis OMIM:619244
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Calcification of the auricular cartilage, Conductive hearing impairment, Abnormal form of the ver... ORPHA:3042
Alstrom Syndrome
Nephritis, Progressive sensorineural hearing impairment, Renal insufficiency, Otitis media, Senso... OMIM:203800
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Scoliosis, Kyphosis ORPHA:476126
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low-set ears, Cupped ear, Short neck, Hemivertebrae, Overfolded helix, Scoliosis, Kyphosis OMIM:618223
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Macrotia, Facial palsy, Hydrocephalus, Scoliosis, Hypospadias, Kyphosi... ORPHA:2658
Mgat2-Cdg
Prominent antihelix, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Scoliosis, P... ORPHA:79329
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Ovarian cyst OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Kyphosis OMIM:610489
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Zttk Syndrome
Low-set ears, Unilateral renal agenesis, Optic atrophy, Horseshoe kidney, Protruding ear, Polyuri... OMIM:617140
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Optic atrophy, Scoliosis, Kyphosis OMIM:618493
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Sensorineural hearing impairment, Scoliosis, K... ORPHA:193
2Q31.1 Microdeletion Syndrome
Low-set ears, Optic disc coloboma, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis ORPHA:251014
Autosomal Recessive Spastic Paraplegia Type 35
Enuresis nocturna, Optic atrophy, Urinary incontinence, Pollakisuria, Kyphosis ORPHA:171629
Classical-Like Ehlers-Danlos Syndrome Type 2
Umbilical hernia, Sacral dimple, Thoracic scoliosis, Kyphoscoliosis, Kyphosis, Macrotia ORPHA:536532
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... OMIM:216400
Postencephalitic Parkinsonism
Camptocormia, Kyphosis ORPHA:97349
Camurati-Engelmann Disease
Optic atrophy, Abnormality of the vertebral column, Urinary retention, Hearing impairment, Optic ... ORPHA:1328
Rett Syndrome, Congenital Variant
Protruding ear, Scoliosis, Kyphosis OMIM:613454
Rett Syndrome
Scoliosis, Kyphosis OMIM:312750
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Optic atrophy, Progressive sensorineural hearing imp... ORPHA:191
Weaver Syndrome
Scoliosis, Kyphosis, Macrotia, Umbilical hernia OMIM:277590
Occipital Horn Syndrome
Platyspondyly, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Orthostatic hypotensio... OMIM:304150
Triosephosphate Isomerase Deficiency
Death in adolescence, Optic disc pallor, Kyphosis, Death in infancy OMIM:615512
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Optic atrophy, Posteriorly rotated ears, Kyphosis OMIM:617527
Familial Osteodysplasia, Anderson Type
Abnormal form of the vertebral bodies, Abnormal earlobe morphology, Large earlobe, Scoliosis, Kyp... ORPHA:2769
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Dilatation of the renal pelvis, Hearing impairment, Recurrent urinary ... ORPHA:268261
Intellectual Developmental Disorder, Autosomal Dominant 57
Posteriorly rotated ears, Scoliosis, Kyphosis, Otitis media OMIM:618050
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Optic atrophy, Kyphosis, Sensorineural hearing impairment ORPHA:521426
Magel2-Related Prader-Willi-Like Syndrome
Micropenis, Scoliosis, Kyphosis ORPHA:398069
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Hypospadias, Kyphosis, Hearing impairment ORPHA:85199
Cowden Syndrome
Abnormal penis morphology, Hearing impairment, Enlarged polycystic ovaries, Abnormality of the ki... ORPHA:201
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord... OMIM:618019
Frank-Ter Haar Syndrome
Low-set ears, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Protruding ear, Simple ea... OMIM:249420
Cardiofacioneurodevelopmental Syndrome
Protruding ear, Kyphosis OMIM:619123
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Prader-Willi Syndrome
Micropenis, Scoliosis, Kyphosis OMIM:176270
Atelis Syndrome 2
Low-set ears, Protruding ear, Kyphosis, Sacral dimple OMIM:620185
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Kyphosis OMIM:616914
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Hearing impairment, Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral interp... OMIM:143095
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypospadias, Cupped ear, Hearing impairment, Otitis media, Back pain, Hematuria, Protruding ear, ... OMIM:619475
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, R... OMIM:309000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Hydroureter, Abnormality of the vertebral column, H... ORPHA:2273
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Wolf-Hirschhorn Syndrome
Hypospadias, Conductive hearing impairment, Abnormal form of the vertebral bodies, Stenosis of th... OMIM:194190
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Vertebral compre... OMIM:259770
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Hydrocephalus, Kyphosis, Sacral dimple ORPHA:401973
Sotos Syndrome
Abnormal vertebral morphology, Hypospadias, Conductive hearing impairment, Renal agenesis, Hearin... ORPHA:821
Mucolipidosis Type Ii
Conductive hearing impairment, Umbilical hernia, Otitis media, Sensorineural hearing impairment, ... ORPHA:576
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Scoliosis, Kyphosis OMIM:619482
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Kyphosis, Back pain OMIM:106300
Acromegaly
Long penis, Spinal canal stenosis, Wide penis, Dysuria, Kyphosis, Macrotia ORPHA:963
Ramon Syndrome
Optic disc pallor, Scoliosis, Kyphosis, Hearing impairment OMIM:266270
Occipital Horn Syndrome
Platyspondyly, Recurrent urinary tract infections, Bladder diverticulum, Scoliosis, Kyphosis ORPHA:198
Cleidocranial Dysplasia 1
Spondylolysis, Hearing impairment, Spondylolisthesis, Scoliosis, Kyphosis OMIM:119600
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Scoliosis, Kyphosis ORPHA:394
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Lumbar hyperlordosis, Kyphosis, Hearing impairment ORPHA:2232
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Aspartylglucosaminuria, Spondylolisthesis, Beaking of vertebral bod... OMIM:208400
Stickler Syndrome
Platyspondyly, Abnormal form of the vertebral bodies, Hearing impairment, Spinal canal stenosis, ... ORPHA:828
Somatomammotropinoma
Dysuria, Spinal canal stenosis, Kyphosis, Macrotia ORPHA:314769
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Scoliosis, Kyphosis ORPHA:1969
Norrie Disease
Optic atrophy, Abnormal helix morphology, Sensorineural hearing impairment, Protruding ear, Scoli... ORPHA:649
Neurofibromatosis Type 1
Hearing impairment, Hearing abnormality, Abnormality of the upper urinary tract, Hydrocephalus, S... ORPHA:636
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:182210
Viss Syndrome
Low-set ears, Cupped ear, Umbilical hernia, Exostosis of the external auditory canal, Butterfly v... OMIM:619472
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
17Q11 Microdeletion Syndrome
Low-set ears, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Renal arte... ORPHA:97685
Marfan Syndrome
Kyphosis, Meningocele, Scoliosis, Spondylolisthesis ORPHA:558
Hennekam Syndrome
Low-set ears, Narrow chest, Chylothorax, Finger syndactyly, Conductive hearing impairment, Campto... ORPHA:2136
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:300967
Wrinkly Skin Syndrome
Low-set ears, Scoliosis, Kyphosis, Umbilical hernia OMIM:278250
Alström Syndrome
Chronic kidney disease, Polycystic ovaries, Lumbar scoliosis, Glomerulonephritis, Thickened ears,... ORPHA:64
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,... OMIM:300106
Primrose Syndrome
Calcification of the auricular cartilage, Kyphosis, Hearing impairment, Superiorly displaced ears... OMIM:259050

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 Fat4

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 Fat4.

No publications found that use IMPC mice or data for Fat4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Fat4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fat4em1(IMPC)Marc Deletion Mice
Fat4tm43008(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fat4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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