Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
spalt like transcription factor 4
Synonyms:
5730441M18Rik,  C330011P20Rik,  Tex20

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Sall4 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 Sall4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Radial Hemimelia
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... ORPHA:93321
Craniosynostosis, Adelaide Type
Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co... OMIM:600593
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st... OMIM:182255
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Brachydactyly, Type A1, D
Short distal phalanx of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Sh... OMIM:616849
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca... ORPHA:50809
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E... OMIM:201250
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death OMIM:620203
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe... OMIM:272150
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle, Short thumb, E... ORPHA:968
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte... OMIM:606835
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula, Abnormality of the urinary system, Conductive hearing impairment, Broad hallux, Abno... ORPHA:2669
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe... OMIM:127300
Brachydactyly, Type A1
Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h... OMIM:112500
Lowe-Kohn-Cohen Syndrome
Nephropathy, Anorectal anomaly, Anal atresia, Sensorineural hearing impairment ORPHA:2408
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... OMIM:617719
Brachydactyly, Type A1, B
Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S... OMIM:607004
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon, Unilateral renal agenesis, Hand polydactyly, Hearing impairment OMIM:235740
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific... OMIM:105835
Anus, Imperforate
Ectopic anus, Anal atresia, Hypospadias, Hearing impairment OMIM:301800
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ... OMIM:228900
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ... ORPHA:93396
Familial Digital Arthropathy-Brachydactyly
Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all... ORPHA:85169
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb undergrowth, Ab... ORPHA:93351
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Absence of the sacrum, Neonatal death, Persistent cloaca, Anal atresia OMIM:615709
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Hypogonadism, Stenosis of the external auditory cana... ORPHA:3216
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal OMIM:112410
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Choanal atresia, Conductive hearing impairment, Hear... OMIM:608572
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... OMIM:613854
Distal Deletion 10P
Wide nasal bridge, Hearing impairment, Low-set, posteriorly rotated ears, Micrognathia, Hearing a... ORPHA:1580
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Neonatal death, Talipes equinovarus, Renal dysplasia, Ureteral agenesis, Bulbous no... OMIM:236500
Banki Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach... ORPHA:1228
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Orofaciodigital Syndrome Xvii
Low-set ears, High, narrow palate, Renal hypoplasia, Hearing impairment, Retrognathia, Clinodacty... OMIM:617926
Tarsal-Carpal Coalition Syndrome
Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr... OMIM:186570
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Vaginal fistula, Abnormal pelvic girdle bone morphology, Toe syndactyly, Aplasia/Hypoplasia of th... ORPHA:1112
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Metaphyseal dysplasia, Genu varum, Delayed ossification of carpal bone... OMIM:617974
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Chronic kidney disease, Depressed nasa... OMIM:617661
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... OMIM:606895
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Conductive hearing impairment, Renal agenesis, Azoospermia, Micrognath... OMIM:601076
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism, Sensorineural hearing impairment, Aplasia/Hypoplasia of the thumb, Abnormal metac... ORPHA:1307
Short Stature-Wormian Bones-Dextrocardia Syndrome
Low-set ears, Midshaft hypospadias, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly o... ORPHA:2863
Bresek Syndrome
Low-set ears, Renal hypoplasia, Hypoplasia of the bladder, Hearing impairment, Decreased testicul... ORPHA:85284
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles... OMIM:221300
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Ivic Syndrome
Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carp... OMIM:147750
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Cat-Eye Syndrome
Hearing impairment, Renal hypoplasia/aplasia, Hydronephrosis, Anal atresia, Hip dysplasia, Abnorm... ORPHA:195
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Depressed nasal bridge, Renal hypoplasia, Toe syndactyly, Renal agenesis, Umbilical... ORPHA:171839
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Finger syndactyly, Aplasia of the pr... ORPHA:2256
Baller-Gerold Syndrome
Low-set ears, Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Patellar aplasia, Per... OMIM:218600
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves... OMIM:113650
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, High, narrow palate, Hearing impairmen... OMIM:618494
Meier-Gorlin Syndrome 8
Low-set ears, Nephroptosis, Bilateral cryptorchidism, Unilateral renal hypoplasia, Micrognathia, ... OMIM:617564
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Isolated Klippel-Feil Syndrome
Hearing impairment, Abnormal shoulder morphology, Abnormal cranial nerve morphology, Renal hypopl... ORPHA:2345
Bardet-Biedl Syndrome 19
Renal hypoplasia, Postaxial foot polydactyly, Hearing impairment, Hypogonadism, Mesoaxial hand po... OMIM:615996
Distal Symphalangism
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Camptodactyly of f... ORPHA:3248
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi... OMIM:102510
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa... OMIM:309630
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Right Atrial Isomerism
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... OMIM:208530
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Low-set ears, Unilateral renal agenesis, Depressed nasal bridge, Retrognathia, Preaxial polydacty... OMIM:618142
Pseudoachondroplasia
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys... OMIM:177170
Even-Plus Syndrome
Epiphyseal dysplasia, Atopic dermatitis, Renal hypoplasia, Depressed nasal ridge, Bifid nasal tip... OMIM:616854
Multiple Synostoses Syndrome
Broad thumb, Cone-shaped epiphysis, Conductive hearing impairment, Bilateral single transverse pa... ORPHA:3237
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
46,Xy Sex Reversal 4
Sex reversal, Depressed nasal ridge, Hypoplasia of the uterus, Gonadal dysgenesis, Recurrent otit... OMIM:154230
Emanuel Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Cryptorchidism, Delayed e... OMIM:609029
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Renal hypoplasia, Microretrognathia, Split hand, Camptodactyly, High p... OMIM:246560
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Anosmia, Hearing impairment, Cryptorchidism, Hypogonadotropic hypogona... OMIM:244200
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Oligohydramnios, Anal atresia, Ureteral dysgenesis OMIM:274265
Winchester Syndrome
Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy OMIM:277950
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Low-set ears, Small scrotum, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibul... OMIM:276820
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal toe morphology, Aplasia/Hypoplasia of the thumb, Abnormality of... OMIM:216100
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Nager Syndrome
Unilateral renal agenesis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Atresia o... ORPHA:245
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Duane-Radial Ray Syndrome
Sensorineural hearing impairment, Aplasia of metacarpal bones, Slit-like opening of the exterior ... OMIM:607323
Arthrogryposis, Distal, Type 2B2
Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Overlapping fingers, Talipes ... OMIM:618435
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Conductive hearing impairment, Hearing impairment, Sensorineural heari... OMIM:118100
Chromosome 3Pter-P25 Deletion Syndrome
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Ret... OMIM:613792
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... OMIM:611263
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Pfeiffer Syndrome Type 3
Low-set ears, Small hand, Toe syndactyly, Broad thumb, Hearing impairment, Finger syndactyly, Sho... ORPHA:93260
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorch... OMIM:613390
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Carious teeth, Dental malocclusion, Hearing impairment, Retrognathia, ... ORPHA:363444
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Low-set ears, Unilateral renal agenesis, Depressed nasal bridge, Hearing impairment, Sandal gap, ... OMIM:619951
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Broad nasal tip, Micrognathia, Cryptorchidism, Hydronephrosis, Hydroce... OMIM:609757
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Craniodiaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge, Optic atrophy, Conductive hearing impairment, Stenosis... ORPHA:1513
Brachydactyly Type C
Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan... ORPHA:93384
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Unilateral renal agenesis, Broad nasal tip, Gonadal dysgenesis, Low-set, post... ORPHA:3306
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ... OMIM:112450
15Q24 Microdeletion Syndrome
Wide nasal base, Depressed nasal bridge, Abnormality of the outer ear, Small hand, Hearing impair... ORPHA:94065
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Delayed cranial suture cl... OMIM:175700
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Conductive hearing impairment, Finger syndactyly, Bilateral cleft palate, Anal atr... ORPHA:1997
Hadziselimovic Syndrome
Low-set ears, Renal hypoplasia, Anteverted nares, Prominent nasal bridge, Anal atresia, High pala... OMIM:612946
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Truncus arterio... OMIM:620294
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Wide nasal bridge, Conductive hearing impairment, Underdeveloped nasal alae, Micrognathia, Joint ... OMIM:248910
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia... ORPHA:85166
Holzgreve Syndrome
Hand polydactyly, Renal hypoplasia, Renal agenesis, Cleft palate OMIM:236110
Synostoses, Tarsal, Carpal, And Digital
Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Metacarpophalangeal sy... OMIM:186400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Low-set ears, Hypoplastic scapulae, Dilatation of the renal pelvis, Clinodactyly, Abnormal earlob... ORPHA:95699
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Abnormality of the uterus, Low-set, posteriorly rotated ear... ORPHA:59315
Meckel Syndrome 12
Low-set ears, Wide nasal bridge, Renal hypoplasia, Bifid uvula, Bilateral renal agenesis, Antever... OMIM:616258
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... ORPHA:2639
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal cupping, Flat glenoid fossa, Conductive hearing impairment, Irregular iliac crest, Re... OMIM:250420
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... OMIM:274000
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Preaxial hand polydactyly,... ORPHA:2549
Intellectual Developmental Disorder, Autosomal Dominant 72
Low-set ears, Renal hypoplasia, Bulbous nose, Spina bifida, Uplifted earlobe, Shawl scrotum, Micr... OMIM:620439
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Emanuel Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Cryptorchidism, Anal atre... ORPHA:96170
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Frontonasal Dysplasia 1
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Conductive hearing i... OMIM:136760
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormality of the urinary system, Abnormal morphology of... ORPHA:1834
Renpenning Syndrome
High, narrow palate, Mandibular prognathia, Broad columella, Decreased testicular size, Prominent... ORPHA:3242
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Trisomy 1Q
Low-set ears, Small scrotum, Multicystic kidney dysplasia, Abnormality of the outer ear, Toe synd... ORPHA:261344
Otofaciocervical Syndrome
Depressed nasal bridge, Conductive hearing impairment, Atresia of the external auditory canal, An... ORPHA:2792
Abruzzo-Erickson Syndrome
Ulnar deviation of finger, Toe syndactyly, Conductive hearing impairment, Short toe, Cryptorchidi... ORPHA:921
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Toe syndactyly, Atresia of the external auditory canal, Velopharyngeal insufficienc... OMIM:154400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Acheiropody
Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Atresia of the external auditory canal, Postaxial foot polydactyly, ... OMIM:146510
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly OMIM:140450
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... OMIM:311300
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Hearing impairment, Recurrent otitis media, Micrognathia, Cryptorchidism, Ing... OMIM:619243
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly, Short distal phalanx of finger, Underdeveloped nasal ... OMIM:601355
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... OMIM:132400
Symphalangism, Proximal, 1A
Distal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal syn... OMIM:185800
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... OMIM:610017
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Bardet-Biedl Syndrome 16
Renal agenesis, Hearing impairment, Recurrent otitis media, Hypogonadism, External genital hypopl... OMIM:615993
Acrodysostosis 1 With Or Without Hormone Resistance
Hearing impairment, Long hallux, Cryptorchidism, Dislocated radial head, Cone-shaped epiphyses of... OMIM:101800
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Depressed nasal ridge, Renal hypoplasia, Eczematoid dermatitis, Retrognathia, Patellar hypoplasia... ORPHA:464288
Orofaciodigital Syndrome Type 4
Low-set ears, Abnormality of the outer ear, Aplasia/Hypoplasia of the tibia, Finger syndactyly, A... ORPHA:2753
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Anteriorly place... ORPHA:1225
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Recurrent otitis media, Cryp... OMIM:616910
Mosaic Trisomy 14
Wide nasal bridge, Camptodactyly of finger, Low-set, posteriorly rotated ears, Anteverted nares, ... ORPHA:1703
Vacterl/Vater Association
Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Cryptorchidism, Anal at... ORPHA:887
Hypertelorism-Microtia-Facial Clefting Syndrome
Bifid nasal tip, Conductive hearing impairment, Atresia of the external auditory canal, Horseshoe... ORPHA:2213
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Feingold Syndrome Type 1
Toe syndactyly, Micrognathia, Sensorineural hearing impairment, Abnormality of the kidney, Anal a... ORPHA:391641
Van Maldergem Syndrome 2
Atresia of the external auditory canal, Hearing impairment, Clinodactyly, Cutaneous finger syndac... OMIM:615546
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Wide nasal bridge, Depressed nasal bridge, Delayed epiphyseal ossification, Short toe, Hypoplasti... OMIM:611717
Schisis Association
Micromelia, Renal agenesis, Encephalocele, Tracheoesophageal fistula, Spina bifida, Omphalocele, ... ORPHA:63862
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Fraser Syndrome 2
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Atresia of the externa... OMIM:617666
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Decreased testicular size, Anal atresia, Mandibular prognathia, Macrotia ORPHA:93950
Prune Belly Syndrome
Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Volvulus, Abnormality of t... ORPHA:2970
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Elbow dislocation, Esophagitis, Amelia, Perineal fistula, Renal hyp... ORPHA:2538
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Scimitar Syndrome
Hypoplastic left heart, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Tetralogy o... ORPHA:185
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Low-set ears, Hearing impairment, Decreased numbers of nephrons, Cryptorchidism, Ectopic kidney, ... OMIM:617641
Diamond-Blackfan Anemia 11
Finger aplasia, Unilateral renal agenesis, Absent thumb, Atresia of the external auditory canal, ... OMIM:614900
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Horseshoe kidney, Simple ear, Anal atresia, Low hanging columella OMIM:619318
Distal Deletion 13Q
Optic atrophy, Encephalocele, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the thumb, Abnormal... ORPHA:1590
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Toe syndactyly, Conductive hea... ORPHA:3082
Myoectodermal Gonadal Dysgenesis Syndrome
Low-set ears, Bifid distal phalanx of toe, Cutaneous finger syndactyly, Sensorineural hearing imp... OMIM:618419
Cloacal Exstrophy
Ureterocele, Abnormal tibia morphology, Renal hypoplasia/aplasia, Talipes equinovarus, Abnormal f... ORPHA:93929
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Heyn-Sproul-Jackson Syndrome
Short phalanx of finger, Short metacarpal, Broad phalanx, Broad metacarpals OMIM:618724
Chromosome 13Q33-Q34 Deletion Syndrome
Hearing impairment, Overlapping toe, Micrognathia, Cryptorchidism, Encephalocele, Talipes equinov... OMIM:619148
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Hearing impairment, Glomerulomegaly, Bila... ORPHA:2260
Cornelia De Lange Syndrome 1
Low-set ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Hypoplastic labia m... OMIM:122470
Lessel-Kubisch Syndrome
Hypogonadism, Renal hypoplasia, Renal insufficiency, Narrow nasal bridge OMIM:618681
Van Maldergem Syndrome 1
Atresia of the external auditory canal, Clinodactyly, Cutaneous finger syndactyly, Micrognathia, ... OMIM:601390
Acrocraniofacial Dysostosis
Broad thumb, Micrognathia, Genu valgum, Sensorineural hearing impairment, Abnormality of the mall... ORPHA:949
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Low-set ears, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Abnormality of the knee, Tibi... ORPHA:457395
Vacterl With Hydrocephalus
Abnormality of the outer ear, Micrognathia, Cryptorchidism, Renal hypoplasia/aplasia, Aqueductal ... ORPHA:3412
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis, Ectopic anus, Sensorineural hearing impairment ORPHA:2866
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ovarian cyst, Bilateral sensorineural... OMIM:614527
Seckel Syndrome 7
Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, Short middle phalanx of the 5t... OMIM:614851
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis, Aganglionic megacolon, Anal atresia, Inguinal hernia OMIM:235760
Bifid Nose With Or Without Anorectal And Renal Anomalies
Low-set ears, Unilateral renal agenesis, Precocious puberty, Renal agenesis, Anteriorly placed an... OMIM:608980
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Clinodactyly, Micrognathia, High palate, Anal atresia... ORPHA:96148
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Anal stenosis, Broad nasal tip, Hearing impairment, Broad hallux, Vesicoureter... OMIM:614749
Spondylometaphyseal Dysplasia, Kozlowski Type
Depressed nasal bridge, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphy... OMIM:184252
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Hearing impairment, Micrognathia, Cryptorchidism, Sensorineural hearing impairm... OMIM:616817
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Low-set ears, Clitoral hypertrophy, Toe syndactyly, Bilateral talipes equinovarus, Anal atresia, ... OMIM:300707
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Depressed nasal bridge, Shortening of all middle phalanges of the fingers, ... OMIM:226980
Vacterl Association With Hydrocephalus
Renal hypoplasia, Absent thumb, Radial club hand, Hydrocephalus, Stillbirth, Aqueductal stenosis,... OMIM:276950
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hamar... ORPHA:251992
Sweeney-Cox Syndrome
Low-set ears, Crumpled ear, Hearing impairment, Velopharyngeal insufficiency, Micrognathia, 2-5 f... OMIM:617746
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short femoral neck, Flared metaphysis, Short palm, Bowing of the legs, Aplasia/Hypoplasia of meta... ORPHA:2502
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Pfeiffer Syndrome Type 2
Low-set ears, Choanal atresia, Depressed nasal bridge, Small hand, Toe syndactyly, Atresia of the... ORPHA:93259
Verheij Syndrome
Wide nasal bridge, Short 5th finger, Renal hypoplasia, Broad nasal tip, Renal agenesis, Retrognat... OMIM:615583
Absence Deformity Of Leg-Cataract Syndrome
Anal atresia, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth ORPHA:2310
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Slender finger, Multiple joint dislocation... ORPHA:93360
Fanconi Anemia, Complementation Group L
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Wide nasal bridge, Absent thumb, Hypop... OMIM:614083
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Polyhydramnios, Abnormal nostril morphology, Anal atresia, Abn... ORPHA:3469
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Cryptorchidism, Encephalocele, Anal atresia, Flat acetabular roof, Macr... OMIM:616300
Carpenter Syndrome 1
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow... OMIM:201000
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Prune belly, Preaxial hand polydactyly, Urinary bladder w... OMIM:601389
Fanconi Anemia, Complementation Group U
Absent thumb, Hypoplasia of the radius, Unilateral facial palsy, Absent radius, Absent scaphoid, ... OMIM:617247
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Low-set ears, Wide nasal bridge, Renal hypoplasia, Dental malocclusion, Bifid scrotum, Umbilical ... ORPHA:85321
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... OMIM:609616
Deafness, Autosomal Dominant 23
Vesicoureteral reflux, Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia, Duplication involving bones of the feet, Optic nerve dysplasia OMIM:246000
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal... OMIM:601186
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Low-set ears, Bifid nasal tip, Renal hypoplasia, Broad nasal tip, Retrognathia, Umbilical hernia,... OMIM:619758
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Low-set ears, Abnormal ilium morphology, Large fleshy ears, Micrognathia, Anal atresia, High pala... OMIM:614080
Radial-Renal Syndrome
Unilateral renal agenesis, Absent thumb, Absent radius, Ectopic kidney, Abnormal pinna morphology OMIM:179280
Short-Rib Thoracic Dysplasia 12
Low-set ears, Hypoplastic scapulae, Natal tooth, Neonatal death, Short foot, Holoprosencephaly, A... OMIM:269860
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Broad nasal tip, Conductive hearing impairment, Atresia of the external auditor... OMIM:239800
Phocomelia, Schinzel Type
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Cryptorchidism, Humerora... ORPHA:2879
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia, Abnormality of the middle ear ossicles, Hearing impairment, Renal hypoplasia/apl... OMIM:267400
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low-set ears, Unilateral renal agenesis, Choanal atresia, Renal agenesis, Retrognathia, Submucous... OMIM:619227
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Low-set ears, Depressed nasal bridge, Proximal femoral epiphysiolysis, Short fourth metatarsal, O... OMIM:616723
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Abdominal wall defect, Abnormal stomach morphology, Hypogonadism, Rena... ORPHA:281090
Ritscher-Schinzel Syndrome 1
Low-set ears, Depressed nasal bridge, Micrognathia, Hydronephrosis, Missing ribs, Hydrocephalus, ... OMIM:220210
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Recu... OMIM:613680
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Hearing impairment, Optic disc coloboma, Vesicour... ORPHA:1475
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormality of the wrist, Micrognathia, Abnormal femur morphology, Cryptorchidism,... ORPHA:2063
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Wide nasal bridge, Cupped ear, Anteriorly placed anus, Micrognathia, Hearing abnormality, Aplasia... ORPHA:1352
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... OMIM:216360
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short long bone, Short foot, Short phal... OMIM:102370
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Limited pronation/supination of forearm, Radial bowing, Madelung deformity DECIPHER:58
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Underdeveloped nasal alae, Abnormal vagina morphology, Anteriorly plac... ORPHA:2315
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Prune belly, Cryptorchidism, Micropenis, Macrotia OMIM:618504
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... OMIM:128980
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Short 5th finger, Congenital hip dislocation, Conductive hearing impairment, Atresia of the exter... OMIM:133705
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Bulbous nose, Hydronephrosis, Anal atres... OMIM:620511
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Brachydactyly, Delayed ossification of carpal bones OMIM:618392
Cat Eye Syndrome
Low-set ears, Anal stenosis, Meckel diverticulum, Renal agenesis, Hearing impairment, Volvulus, H... OMIM:115470
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Cleft... ORPHA:2476
Distal Duplication 15Q
Camptodactyly of finger, Abnormal female external genitalia morphology, Micrognathia, Prominent n... ORPHA:1707
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Cupped ear, Retrognathia, Sandal gap, Umbilical hernia, Micrognathia, Joint con... OMIM:618914
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, ... OMIM:107480
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Codas Syndrome
Crumpled ear, Hypoplasia of the odontoid process, Genu valgum, Cryptorchidism, Sensorineural hear... OMIM:600373
Brachydactylous Dwarfism, Mseleni Type
Hip osteoarthritis, Joint subluxation, Abnormality of the ankle, Osteoarthritis of the elbow, Sho... ORPHA:2619
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Aplasia/Hypop... ORPHA:3301
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Hypoplasia of the maxilla, Abnormality of the outer ear, Conductive ... ORPHA:79113
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, My... OMIM:252500
3C Syndrome
Low-set ears, Finger syndactyly, Micrognathia, Anal atresia, Hypospadias, Short nose, High, narro... ORPHA:7
Treacher Collins Syndrome 4
Micrognathia, Conductive hearing impairment, Choanal stenosis, Cleft palate OMIM:618939
Cerebrofacioarticular Syndrome
Wide nasal bridge, Renal hypoplasia, Hypoplasia of the maxilla, Conductive hearing impairment, An... ORPHA:314679
Hyperparathyroidism, Transient Neonatal
Low-set ears, Unilateral renal agenesis, Wide nasal bridge, Depressed nasal bridge, Fractured rib... OMIM:618188
Bor Syndrome
Multicystic kidney dysplasia, Atresia of the external auditory canal, Hearing impairment, Retrogn... ORPHA:107
Fraser Syndrome 1
Low-set ears, Clitoral hypertrophy, Atresia of the external auditory canal, Aplasia/Hypoplasia of... OMIM:219000
Takenouchi-Kosaki Syndrome
Low-set ears, Unilateral renal agenesis, Flared nostrils, Wide nasal bridge, Dental malocclusion,... OMIM:616737
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Talipes equinovarus, Short... OMIM:618845
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad femoral neck, Upper limb undergrowth, Genu valgum, Limited elbow extension, Coxa vara, Meta... OMIM:271650
Trisomy 12P
Low-set ears, Wide nasal bridge, Abnormality of the urinary system, Micrognathia, Abnormal antihe... ORPHA:1699
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Optic atrop... OMIM:614576
Oculoskeletodental Syndrome
Wide nasal bridge, Depressed nasal bridge, Nephrocalcinosis, Short 5th finger, Conductive hearing... ORPHA:557003
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous f... OMIM:186500
Acrootoocular Syndrome
Low-set ears, Wide nasal base, Atresia of the external auditory canal, Abnormal earlobe morpholog... ORPHA:2980
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Hearing impairment, Horseshoe kidney, Abnormal ear morp... ORPHA:3109
Fg Syndrome Type 1
Finger syndactyly, Clinodactyly of the 2nd finger, Micrognathia, Cryptorchidism, Sensorineural he... ORPHA:93932
Cat-Eye Syndrome (Type I)
Anal atresia, Micrognathia DECIPHER:42
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Low-set ears, Choanal atresia, Optic disc coloboma, Intestinal malrotation, Renal duplication, Po... OMIM:270420
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Neonatal death, Hydronephrosis, Hand polydactyly, Tracheoesophageal fistula, Ureth... OMIM:314390
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited... OMIM:614078
Ventricular Septal Defect 3
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Developmental And Epileptic Encephalopathy 63
Bulbous nose, Overlapping toe, Conductive hearing impairment, Cleft palate OMIM:617976
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Resting tremor, Abnormal upper motor neuron morphology, H... OMIM:601162
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Ca... ORPHA:1488
Fanconi Anemia, Complementation Group F
Pneumonia, Renal hypoplasia, Conductive hearing impairment, Absent thumb, Microphallus, Short thu... OMIM:603467
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Wide nasal bridge, Renal hypoplasia, Rhizomelia, Short iliac bones, Acetabular spurs, Stage 5 chr... OMIM:614376
Pseudotrisomy 13 Syndrome
Low-set ears, Renal hypoplasia, Postaxial foot polydactyly, Holoprosencephaly, Renal agenesis, 11... OMIM:264480
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Hearing impairment, Short thumb, Preaxial hand pol... ORPHA:2307
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Prune Belly Syndrome
Congenital hip dislocation, Prune belly, Xerostomia, Hydroureter, Oligohydramnios, Cryptorchidism... OMIM:100100
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Hearing impairment, Finger syndactyly, Micrognathia, 2-5 finger syndactyly,... OMIM:308050
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger... OMIM:235510
Zechi-Ceide Syndrome
Low-set ears, Wide nasal bridge, Abnormal helix morphology, Short distal phalanx of finger, Condu... ORPHA:217017
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impair... OMIM:616367
Focal Facial Dermal Dysplasia 3, Setleis Type
Depressed nasal bridge, Anal atresia, Bulbous nose OMIM:227260
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Toe syndactyly, Conductive hearing impairment, Broad hallux, Unde... OMIM:184460
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Oligodactyly, Oligohydramnios, Perineal fistula, Hypoplasia of the radius, Rectal a... ORPHA:3016
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Conductive hearing impairment, Underdeveloped nasal alae, Micrognathia, Encephal... ORPHA:398156
Renal Agenesis
Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Bilateral renal agenesis, Aplasia... ORPHA:411709
Fryns Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Anal atresia, High palate, Hypospadia... ORPHA:2059
Fraser Syndrome
Small scrotum, Abnormality of the outer ear, Toe syndactyly, Atresia of the external auditory can... ORPHA:2052
Oeis Complex
Absent scrotum, Cryptorchidism, Talipes equinovarus, Micropenis, Duplicated collecting system, An... OMIM:258040
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... OMIM:212093
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Distal Duplication 6P
Low-set ears, Aplasia/Hypoplasia of the earlobes, Renal hypoplasia, Abnormality of the urinary sy... ORPHA:1745
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Bowing of the long bones, High palate, Flat acetabular roof, Polycystic kid... OMIM:614091
Marden-Walker Syndrome
Low-set ears, High, narrow palate, Renal hypoplasia, Joint contracture of the hand, Anteverted na... OMIM:248700
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Common atrium, Total anomalous pulmonary venous return, Mitral atresia, A... OMIM:306955
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c... ORPHA:50815
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Iniencephaly
Low-set ears, Rhizomelia, Absent vertebra, Spinal dysraphism, Renal agenesis, Myelomeningocele, P... ORPHA:63259
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Conductive hearing impairment, Absent thumb, Short 1st metacarpal, Short thumb,... OMIM:609053
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis, Broad hallux, Micrognathia, Radioulnar synostosis, Enamel hypop... OMIM:212780
Braddock Syndrome
Unilateral renal agenesis, Preaxial hand polydactyly, Micrognathia, Missing ribs, Overfolded heli... ORPHA:52047
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Renal hypoplasia, Abnormality of the uterus, Camptodactyly of fin... ORPHA:3138
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Sensorine... OMIM:305450
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Multicystic kidney dysplasia, Joint contracture of the hand, Natal tooth, Fibular a... OMIM:300373
Isolated Atp Synthase Deficiency
Optic atrophy, Renal hypoplasia, Hypogonadism, 3-Methylglutaconic aciduria, Sensorineural hearing... ORPHA:254913
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Hydrometrocolpos, Gl... ORPHA:2473
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Low-set ears, Choanal atresia, Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Hearing im... OMIM:300968
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Penile Agenesis
Cryptorchidism, Cloacal abnormality, Urethral atresia, male, Urethral fistula, Bilateral talipes ... ORPHA:49
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:270100
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:52429
Smith-Lemli-Opitz Syndrome
Low-set ears, Small scrotum, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis med... OMIM:270400
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Hearing impairment, Clinodactyly, Micrognathia, Cleft soft palate, Cryptorchidism, S... OMIM:616331
Aortic Arch Interruption
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:2299
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... OMIM:601438
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Natal tooth, Hearing impairment, Umbilical hernia, Vesicoureteral reflux, Ing... ORPHA:261652
Neurofaciodigitorenal Syndrome
Low-set ears, Unilateral renal agenesis, Hypoplasia of the premaxilla, Atresia of the external au... ORPHA:2673
Pontocerebellar Hypoplasia, Type 11
Bulbous nose, Anal atresia, Talipes equinovarus, Macrotia OMIM:617695
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Genu valgum, Cryptorchidism, Anal atresia, Hypoplasia of penis, Hypospadias ORPHA:1381
Meier-Gorlin Syndrome 7
Low-set ears, Clitoral hypertrophy, Hearing impairment, Cryptorchidism, Sensorineural hearing imp... OMIM:617063
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Complete duplication of th... OMIM:141400
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Hydroureter, Vesicovaginal fistula, Edema, Hydrometrocolpos, Mesoaxia... OMIM:236700
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Renal agenesis, Sensorineural hearing impairment, Aganglionic megacolon, Postaxial hand polydacty... ORPHA:2155
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Umbilical hernia, Low-set, posteriorly rotated ears, Intestinal mal... ORPHA:2166
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Elbow dislocation, Abnorma... ORPHA:3236
Lumbar Syndrome
Renal agenesis, Bifid scrotum, Myelomeningocele, Vesicoureteral reflux, Cryptorchidism, Renal dup... ORPHA:83628
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Broad nasal tip, Clinodactyly, Prominent nasal bridg... OMIM:616541
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Ectrodactyly, Radial club hand... ORPHA:2878
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly OMIM:618804
Developmental Delay With Or Without Dysmorphic Facies And Autism
Low-set ears, Small scrotum, Hearing impairment, Micrognathia, Cryptorchidism, Short foot, Short ... OMIM:618454
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Low-set ears, Depressed nasal ridge, Optic atrophy, Small hand, Conductive hearing impairment, An... OMIM:618672
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short phalanx of finger, Coxa valga OMIM:132450
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Conductive hearing impairment, Choreoathetosis, Anteverted nares OMIM:618497
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u... ORPHA:2973
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Recurrent otitis media, Underdeveloped tragus, Micrognathia, High palate, Syndactyl... OMIM:620654
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Hearing impairment... ORPHA:1826
Fryns Syndrome
Low-set ears, Abnormal helix morphology, Joint contracture of the hand, Cryptorchidism, Anal atre... OMIM:229850
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Hypoplasia of the maxilla, Bro... OMIM:252100
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Mu... OMIM:223800
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Wide nasal bridge, Clitoral hypertrophy, Toe syndactyly, Renal agenesis, Horseshoe kidney, Bulbou... ORPHA:140952
2Q37 Microdeletion Syndrome
Depressed nasal bridge, Multicystic kidney dysplasia, Toe syndactyly, Conductive hearing impairme... ORPHA:1001
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Conductive hearing impairment, Hearing... ORPHA:207
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Broad hallux, Deviation of the 5th finger, Anteverted nares, Postaxial... OMIM:616362
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Micropenis, Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Cone... OMIM:613091
Sirenomelia
Abnormality of the urinary system, Aplasia/Hypoplasia of the radius, Absence of the sacrum, Siren... ORPHA:3169
Odontochondrodysplasia 1
Mesomelia, Genu recurvatum, Metaphyseal cupping, Micromelia, Irregular epiphyses, Small epiphyses... OMIM:184260
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Renal hypoplasia, Absence of the sacrum, Spinal dysraphism, Vesicoureteral reflux, S... OMIM:617660
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Broad middle phalanx of finger, Short distal phalanx of the thumb, Clinodactyly of the 2nd finger... ORPHA:221139
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Short 1st metacarpal, Bilateral renal agene... OMIM:620305
Townes-Brocks Syndrome 2
Cupped ear, Crossed fused renal ectopia, Vesicoureteral reflux, Spina bifida occulta, Bifid uteru... OMIM:617466
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Multiple joint dislocation, Short femoral neck, Knee dislocation, Carpal bone hypoplasia, Hypopla... OMIM:618395
Saethre-Chotzen Syndrome
Low-set ears, Broad thumb, Hearing impairment, Finger syndactyly, Prominent crus of helix, Delaye... ORPHA:794
Shashi-Pena Syndrome
Low-set ears, Unilateral renal agenesis, Broad nasal tip, Cupped ear, Retrognathia, Cervical C2/C... OMIM:617190
Joubert Syndrome 15
Nephronophthisis, Preaxial polydactyly, Exencephaly, Ambiguous genitalia, Micropenis OMIM:614464
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Hearing impairment, Finger syndactyly, Aplasia/Hyp... ORPHA:84
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Broad thumb, Short thumb, Interphalangeal joint contracture of finger, Enlarged ... OMIM:151200
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Bilateral sensorineural hearing impairment, Optic disc pallor, 2-5 finger syndact... ORPHA:468631
Brain Malformations With Or Without Urinary Tract Defects
Low-set ears, Renal hypoplasia, Anteverted nares, Vesicoureteral reflux, Inguinal hernia, Hydrone... OMIM:613735
Spondylometaphyseal Dysplasia, Algerian Type
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... OMIM:184253
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect OMIM:618354
14Q22Q23 Microdeletion Syndrome
Small scrotum, Renal hypoplasia, Toe syndactyly, Cupped ear, Atresia of the external auditory can... ORPHA:264200
Bardet-Biedl Syndrome 3
External genital hypoplasia, Renal hypoplasia, Postaxial polydactyly, Brachydactyly OMIM:600151
Distal 22Q11.2 Microduplication Syndrome
Low-set ears, Abnormal helix morphology, Toe syndactyly, Micrognathia, Abnormal antihelix morphol... ORPHA:261337
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Low-set ears, Prominent crus of helix, Genu valgum, Cryptorchidism, Hip contracture, Sensorineura... OMIM:619194
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Abnormal pelvic girdle bone morphology, Hydroureter, Anteriorly placed... OMIM:600057
Christian Syndrome
Wide nasal bridge, Prominent metopic ridge, Anal atresia, Short middle phalanx of finger, Fused c... OMIM:309620
Coffin-Siris Syndrome 6
Low-set ears, Depressed nasal bridge, High, narrow palate, Broad nasal tip, Conductive hearing im... OMIM:617808
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hearing impairment, Renal insufficiency, Renal tubular acidosis, Neonatal death... OMIM:614922
Chopra-Amiel-Gordon Syndrome
Flared nostrils, Unilateral renal agenesis, Cleft palate, Thick nasal alae OMIM:619504
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the ankle, Bilateral conductive hearing impairment, Atresia of the external audito... ORPHA:2010
7Q11.23 Microduplication Syndrome
Hearing impairment, Abnormal earlobe morphology, Micrognathia, Cryptorchidism, Abnormal optic dis... ORPHA:96121
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Renal agenesis, Aplasia/Hypoplasia of the sacrum, Abnorma... ORPHA:3027
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... ORPHA:1209
Duplication Of Urethra
Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco... ORPHA:237
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Ureterocele, Toe syndactyly, Cryptorchidism, Absence of Stensen duct, ... OMIM:129900
Postaxial Acrofacial Dysostosis
Cupped ear, Conductive hearing impairment, Finger syndactyly, Camptodactyly of finger, Low-set, p... ORPHA:246
Blepharocheilodontic Syndrome 1
Choanal atresia, Clinodactyly, Cutaneous syndactyly, Anal atresia, Neural tube defect OMIM:119580
Bartsocas-Papas Syndrome 1
Low-set ears, Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Hy... OMIM:263650
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Auriculocondylar Syndrome 3
Bifid uvula, Bilateral conductive hearing impairment, Retrognathia, Question mark ear, Stenosis o... OMIM:615706
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Conductive hearing impairment, Abnorma... ORPHA:93262
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Progressive sensorineural hearing impairment, Uterus didelphys, Septat... ORPHA:2237
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Depressed nasal bridge, Broad thumb, Conductive... ORPHA:2876
Kapur-Toriello Syndrome
Low-set ears, Joint contracture of the hand, Abnormality of the urinary system, Conductive hearin... OMIM:244300
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Clinodactyly of the 5th finger, Chronic otitis media, Conductive hearing impairment, Atresia of t... OMIM:221320
Solitary Rectal Ulcer Syndrome
Hematochezia, Rectal prolapse, Stercoral ulcer, Anal fissure ORPHA:209964
12Q14 Microdeletion Syndrome
Renal hypoplasia, Horseshoe kidney, Intestinal malrotation, Micrognathia, Prominent nasal bridge,... ORPHA:94063
Stromme Syndrome
Low-set ears, Wide nasal bridge, Bilateral renal hypoplasia, Preaxial polydactyly, Intestinal mal... OMIM:243605
Exstrophy-Epispadias Complex
Abnormal joint morphology, Abnormality of the ureter, Cryptorchidism, Abnormality of the abdomina... ORPHA:322
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... OMIM:251450
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, Depressed nasal bridge, Umbilical hernia, Sensorineural hearing impairment, Anal at... OMIM:612582
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Conductive hearing impairment, Atresia of the external auditory... OMIM:602471
Craniometaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge, Conductive hearing impairment, Abnormal cranial nerve ... ORPHA:1522
Trisomy 18
Cryptorchidism, Bilateral single transverse palmar creases, Anal atresia, Holoprosencephaly, Shor... ORPHA:3380
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Trichorhinophalangeal Syndrome Type 2
Wide nasal bridge, Conductive hearing impairment, Joint dislocation, Recurrent urinary tract infe... ORPHA:502
Ramon Syndrome
Conductive hearing impairment, Delayed eruption of teeth, Abnormal dental enamel morphology, Sens... ORPHA:3019
Smith-Magenis Syndrome
Wide nasal bridge, Abnormal nerve conduction velocity, Abnormality of the outer ear, Abnormality ... OMIM:182290
Anus, Imperforate
Anal atresia OMIM:207500
Leopard Syndrome 1
Low-set ears, Unilateral renal agenesis, Depressed nasal ridge, Mandibular prognathia, Cryptorchi... OMIM:151100
Apert Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Sensorineural hearing impairment, Aplasia/Hypopla... ORPHA:87
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... ORPHA:2633
Birk-Landau-Perez Syndrome
Optic atrophy, Renal hypoplasia, Progressive sensorineural hearing impairment, Hyperechogenic kid... OMIM:617595
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Conductive hearing impairment ORPHA:85179
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Atresia of the external auditory canal, Branch... OMIM:609166
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Cryptorchidism, Talipes equino... OMIM:611209
Kniest Dysplasia
Delayed epiphyseal ossification, Depressed nasal bridge, Rhizomelia, Conductive hearing impairmen... OMIM:156550
Larsen-Like Syndrome
Low-set ears, Dental malocclusion, Conductive hearing impairment, Joint dislocation, Recurrent ot... OMIM:608545
Cardiospondylocarpofacial Syndrome
High, narrow palate, Synostosis of carpal bones, Conductive hearing impairment, Failure of erupti... ORPHA:3238
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Recurrent otitis media, Overlapping toe, Micrognathia, Talipes equinovarus, High pa... OMIM:213980
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Hypoplasia of t... ORPHA:989
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Micrognathia, Aplasia of the uterus, Anteriorly displaced ure... OMIM:266810
Acrocallosal Syndrome
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Hearing impairment, Finger syndactyly, ... OMIM:200990
Focal Facial Dermal Dysplasia Type Iii
Wide nasal bridge, Depressed nasal ridge, Abnormality of the upper urinary tract, Abnormal sacroi... ORPHA:1807
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Natal tooth, Short tibia, Micrognathia, Neonatal death, Anal atresia, Abnormal pinn... OMIM:617925
Deafness-Ear Malformation-Facial Palsy Syndrome
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... ORPHA:3232
ERI1-related disease
Low-set ears, Velopharyngeal insufficiency, Micrognathia, Patellar dislocation, Finger joint hype... OMIM:608739
Waardenburg Syndrome
Wide nasal bridge, Conductive hearing impairment, Hearing impairment, Underdeveloped nasal alae, ... ORPHA:3440
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Short distal phalanx of finger, Mandibular prognathia, Broad nasal tip, Hearin... OMIM:239300
Smith-Mccort Dysplasia 2
Broad femoral neck, Genu valgum, Enlarged interphalangeal joints, Limited elbow extension, Promin... OMIM:615222
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Acrocardiofacial Syndrome
Low-set ears, Wide nasal bridge, Toe syndactyly, Joint dislocation, Finger syndactyly, Camptodact... ORPHA:2008
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Microretrognathia, Finger syndactyly, Camptodactyly of finger, Lo... ORPHA:2994
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Depressed nasal bridge, Broad nasal tip, Dislocated radial head, Hypoplasia... OMIM:617425
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Retrognathia, Micrognathia, Prominent nasal bridge, 3-Methylglut... OMIM:604273
Cach Syndrome
Optic atrophy, Renal hypoplasia, Gonadal dysgenesis, Oligohydramnios, Optic neuritis, Pancreatitis ORPHA:135
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Cervical C2/C3 vertebral fusion,... OMIM:214300
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Postaxial Acrofacial Dysostosis
Low-set ears, Choanal atresia, Congenital hip dislocation, Cupped ear, Conductive hearing impairm... OMIM:263750
Steel Syndrome
Carpal synostosis, Limited elbow extension, Coxa vara, Clinodactyly of the 5th finger, Dislocated... OMIM:615155
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Radial Aplasia, X-Linked
Hydrocephalus, Anal atresia, Penile hypospadias, Absent radius OMIM:312190
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Renal hyp... ORPHA:959
Johnson Neuroectodermal Syndrome
Choanal atresia, Anosmia, Carious teeth, Conductive hearing impairment, Atresia of the external a... ORPHA:2316
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Irregular carpal bones, Inguinal hernia, Short ribs, Carpal bone hypop... OMIM:252600
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Thakker-Donnai Syndrome
Bulbous nose, Anteverted nares, Communicating hydrocephalus, Hydronephrosis, Cervical C2/C3 verte... ORPHA:1780
49,Xyyyy Syndrome
Short 5th finger, Finger clinodactyly, Bridged palmar crease, Radioulnar synostosis, Cubitus valg... ORPHA:99330
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Aspiratio... ORPHA:99772
Opitz Gbbb Syndrome
Low-set ears, Natal tooth, Hearing impairment, Ankyloglossia, Micrognathia, Cryptorchidism, Anal ... ORPHA:2745
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Small hand, Large fleshy ears, Urinary bladder wall hypertrophy, Anal atresia, High palate, Short... ORPHA:280633
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Wrist swelling, Carpal osteolysis, Metacarpal osteolysis, Bilateral elbow disloca... OMIM:166300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Anal atresia, Brachydactyly, Fused cervical vertebrae ORPHA:1436
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Conductive hearing impairment, Short toe, Sandal gap, Short 5th metacarpal, Antever... OMIM:617877
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Cryptorchidism, Arachnodactyly, Optic disc pallor, Hypospadias, Duodenal atresia,... ORPHA:464306
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia, Unilateral c... OMIM:300946
Pallister-Hall Syndrome
Small scrotum, Toe syndactyly, Auricular tag, Atresia of the external auditory canal, Natal tooth... ORPHA:672
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Genu valgum, Cubitus valgus, Metaphyseal striations, Sle... OMIM:608154
Multiple Osteochondromas
Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor... ORPHA:321
Orofaciodigital Syndrome Vi