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Gene: Sall4 MGI:2139360

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

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 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
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... OMIM:186550
Radial Hemimelia
Abnormality of the trapezium, Abnormality of the scaphoid, Aplasia of the 1st metacarpal, Abnorma... ORPHA:93321
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect OMIM:614474
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed ossification of carpal bones, Delayed epiphyseal ossification, Short middle phalanx of fi... OMIM:182255
Craniosynostosis, Adelaide Type
Craniosynostosis, Hallux valgus, Carpal bone malsegmentation, Shortening of all distal phalanges ... OMIM:600593
Brachydactyly, Type C
Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ... OMIM:113100
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Talo-Patello-Scaphoid Osteolysis
Osteolysis of patellae, Osteolysis of scaphoids, Osteolysis of talus, Short 4th metacarpal, Enlar... ORPHA:50809
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Abnormal carpal morphology, Abnormal... ORPHA:2632
Non-Syndromic Anorectal Malformation
Rectal fistula, Hydrocolpos, Anal atresia, Persistent cloaca, Rectourethral fistula, Myelomeningo... ORPHA:557
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Postaxial Oligodactyly, Tetramelic
Postaxial oligodactyly, Postaxial foot polydactyly, Absent fifth metatarsal, Radial bowing, Lunat... OMIM:176240
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles,... ORPHA:3216
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,... OMIM:607078
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of talus, Synov... OMIM:609655
Acromesomelic Dysplasia 2C
Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ... OMIM:201250
Syndactyly, Type V
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... OMIM:186300
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Partial duplication of the distal phalanx of the hallux, Conductive hearing impai... ORPHA:2669
Lowe-Kohn-Cohen Syndrome
Anal atresia, Nephropathy, Sensorineural hearing impairment, Anorectal anomaly ORPHA:2408
Sugarman Brachydactyly
Double first metacarpals, Proximal placement of hallux, Symphalangism affecting the proximal phal... OMIM:272150
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Unilateral renal agenesis, Aganglionic megacolon, Hearing impairment OMIM:235740
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Arthropathy, Short middle phalanx of finger, Brachytelomesophalan... OMIM:606835
Acromesomelic Dysplasia, Hunter-Thompson Type
Hip dislocation, Bilateral single transverse palmar creases, Short thumb, Abnormally shaped carpa... ORPHA:968
Brachydactyly, Type A1
Broad metacarpal epiphyses, Short distal phalanx of finger, Radial deviation of the 4th finger, R... OMIM:112500
Anus, Imperforate
Hypospadias, Anal atresia, Ectopic anus, Hearing impairment OMIM:301800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Single transverse palmar crease, Brachydactyly, Microretrognathia, 2-3 toe syndactyly, Multinucle... OMIM:236500
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Abnormal metatarsal morphology, Increased carrying angle, Abnormal ca... OMIM:127300
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Flat acetabular roof, Advanced ossification of carpal bones, Monkey wrench femoral ne... OMIM:617719
Brachydactyly, Type A1, C
Short middle phalanx of the 4th finger, Short distal phalanx of finger, Bilateral talipes equinov... OMIM:615072
Sacral Agenesis With Vertebral Anomalies
Anal atresia, Persistent cloaca, Unilateral renal agenesis, Neonatal death, Absence of the sacrum OMIM:615709
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Delayed ossification of carpal bones, Pseudoepiphyses of... OMIM:105835
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles... OMIM:221300
Brachydactyly, Type A1, B
Short distal phalanx of finger, Type A brachydactyly, Broad distal hallux, Short middle phalanx o... OMIM:607004
Burn-Mckeown Syndrome
Bilateral choanal atresia/stenosis, Inguinal hernia, Conductive hearing impairment, Prominent nas... OMIM:608572
Pseudoachondroplasia
Wind-swept deformity of the knees, Increased laxity of ankles, Osteoarthritis, Irregular epiphyse... ORPHA:750
Symphalangism With Multiple Anomalies Of Hands And Feet
Short distal phalanx of hallux, Small thenar eminence, Conductive hearing impairment, Aplasia/Hyp... ORPHA:3246
Brachydactyly Type B
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... ORPHA:93383
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Total anomalous pulm... OMIM:613854
Distal Deletion 10P
Low-set, posteriorly rotated ears, Cryptorchidism, Anal atresia, Polycystic ovaries, Abnormality ... ORPHA:1580
Brachydactyly Type A2
Type A2 brachydactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle p... ORPHA:93396
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... OMIM:610713
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Low-set ears, Anteriorly placed anus, Chronic kidney disease, Rhizomelia, Unilateral renal agenes... OMIM:617661
Familial Digital Arthropathy-Brachydactyly
Short distal phalanx of finger, Short middle phalanx of finger, Osteoarthritis of the small joint... ORPHA:85169
Bardet-Biedl Syndrome 19
Hydronephrosis, Hypogonadism, External genital hypoplasia, Postaxial polydactyly, Renal insuffici... OMIM:615996
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Ectopic kidney, Unilateral renal agenesis, Hypoplasia of the uteru... OMIM:601076
Acromesomelic Dysplasia 2B
Deviation of finger, Absent toe, Short metatarsal, Short metacarpal, Patellar dislocation, Brachy... OMIM:228900
Orofaciodigital Syndrome Xvii
Clinodactyly, Low-set ears, Prominent metopic ridge, Retrognathia, Micropenis, Polydactyly, Centr... OMIM:617926
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal joint morphology, Abnormal metaphysis morphology, Short metatarsal, Short metacarpal, Sy... ORPHA:93351
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Split foot, Vaginal fistula, Persistent cloaca, Finger syndactyly, Renal hypoplasia/aplasia, Abno... ORPHA:1112
Syndactyly Type 5
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... ORPHA:93406
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Bresek Syndrome
Low-set ears, Cryptorchidism, Decreased testicular size, Hypoplasia of the bladder, Protruding ea... ORPHA:85284
Hypertension And Brachydactyly Syndrome
Type E brachydactyly, Short phalanx of finger, Short metacarpal, Cone-shaped epiphysis OMIM:112410
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Cleft palate, Microglossia, Abnormal morphology of ulna, Proteinuria, Low-set, post... ORPHA:1307
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Short Stature-Wormian Bones-Dextrocardia Syndrome
Depressed nasal tip, Low-set ears, Cryptorchidism, Anal atresia, High palate, Camptodactyly of fi... ORPHA:2863
Tarsal-Carpal Coalition Syndrome
Short finger, Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, ... OMIM:186570
Ivic Syndrome
Short thumb, Hearing impairment, Carpal synostosis, Short 1st metacarpal, Triphalangeal thumb, Hy... OMIM:147750
Branchiootorenal Syndrome 1
Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Bifid uvula, Cleft pala... OMIM:113650
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... ORPHA:157801
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Low-set ears, Cryptorchidism, Micropenis, Hydrocephalus, Umbilical hernia, Shor... ORPHA:171839
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Absent trapezoid bone, Distal foot symphalangism, Absent trapeziu... OMIM:606895
Brachydactyly Type B2
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... ORPHA:140908
Banki Syndrome
Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5t... ORPHA:1228
Cat-Eye Syndrome
Hydronephrosis, Anal atresia, Hip dysplasia, Renal hypoplasia/aplasia, Hearing impairment, Abnorm... ORPHA:195
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Madelung deformity, Dorsal subluxation of ulna, Diaphyse... ORPHA:240
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Genu varum, Delayed ossification of carpal bones, Irregular acetabular roof, Metaphyseal dysplasi... OMIM:617974
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Shawl scrotum, Cryptorchidism, Aplasia of the proximal phalanges of the hand, Protruding ear, Apl... ORPHA:2256
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hip dysplasia, Hearing impairment, Cleft palate, Hydronephrosis, Cryptorchidism, Overlapping toe,... OMIM:618494
Meier-Gorlin Syndrome 8
Low-set ears, Unilateral renal hypoplasia, Nephroptosis, Bilateral cryptorchidism, Micrognathia, ... OMIM:617564
Baller-Gerold Syndrome
Bicoronal synostosis, Oligodactyly, Abnormality of the kidney, Bifid uvula, Aplasia of metacarpal... OMIM:218600
Right Atrial Isomerism
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Tetralogy of ... OMIM:208530
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Isolated Klippel-Feil Syndrome
Anal atresia, Abnormal cranial nerve morphology, Spina bifida, Renal hypoplasia/aplasia, Cleft pa... ORPHA:2345
Cardiomyopathy, Dilated, 2D
Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, Right atrial enlargement,... OMIM:619371
Acropectorovertebral Dysplasia
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... OMIM:102510
Ulnar Hemimelia
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... ORPHA:93320
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Low-set ears, High palate, Retrognathia, Micropenis, Ambiguous genitalia, Preaxial polydactyly, O... OMIM:618142
Peripheral Dysostosis
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Spina bifida, Ventricular septal defect, Anencephaly, Cleft palate, Ectop... ORPHA:2476
Multiple Synostoses Syndrome
Conductive hearing impairment, Broad thumb, Short palm, Symphalangism affecting the phalanges of ... ORPHA:3237
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the inner e... ORPHA:2549
Wahab Syndrome
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... OMIM:615170
Pseudoachondroplasia
Short distal phalanx of finger, Radial metaphyseal irregularity, Osteoarthritis, Irregular epiphy... OMIM:177170
Even-Plus Syndrome
Recurrent urinary tract infections, Anal atresia, High palate, Atopic dermatitis, Bifid nasal tip... OMIM:616854
Emanuel Syndrome
Inguinal hernia, Chronic oral candidiasis, Hearing impairment, Cleft palate, Recurrent urinary tr... OMIM:609029
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Finger joint hypermobility, Micropenis, Unilateral renal agenesis, Hyposmia, Clef... OMIM:244200
Split-Hand/Foot Malformation 3
High palate, Camptodactyly, Abnormal pinna morphology, Cleft palate, Microretrognathia, Split han... OMIM:246560
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormal distal phalanx morphology of finger, Abnormality of the humerus, Aplasia/Hypoplasia of t... ORPHA:1275
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia, Renal hypoplasia/aplasia, Abnormality of the middle ear ossicles, Hearing impair... OMIM:267400
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Thymic-Renal-Anal-Lung Dysplasia
Anal atresia, Oligohydramnios, Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Nager Syndrome
Low-set, posteriorly rotated ears, Abnormal nasal morphology, Phocomelia, Aplasia/Hypoplasia of t... ORPHA:245
Distal Symphalangism
Camptodactyly of finger, Synostosis of carpal bones, Symphalangism affecting the phalanges of the... ORPHA:3248
Proximal Symphalangism
Elbow ankylosis, Camptodactyly of finger, Proximal symphalangism, Abnormality of the wrist, Synos... ORPHA:3250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Congenital pseudoarthrosis of the clavicle, Elbow ankylosis, Aplasia/Hypoplasia of metatarsal bon... OMIM:276820
Metacarpal 4-5 Fusion
4-5 metacarpal synostosis, Short 5th metacarpal, 2-3 toe cutaneous syndactyly, Clinodactyly of th... OMIM:309630
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Low-set ears, Conductive hearing impairment, Underdeveloped tragus, Abnormal antih... ORPHA:79113
46,Xy Sex Reversal 4
Hydronephrosis, Anal atresia, High palate, Agonadism, Depressed nasal ridge, Ureteropelvic juncti... OMIM:154230
Brachydactyly, Type B2
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... OMIM:611377
Chromosome 3Pter-P25 Deletion Syndrome
Abnormal renal morphology, Broad nasal tip, Prominent metopic ridge, Hearing impairment, Overfold... OMIM:613792
Duane-Radial Ray Syndrome
Short thumb, Horseshoe kidney, Aplasia of metacarpal bones, Choanal atresia, Shoulder dislocation... OMIM:607323
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Conductive hearing impairment, Mixed hearing impairment, Abnormality o... OMIM:118100
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pinna ... OMIM:128980
Bor Syndrome
Hydronephrosis, External ear malformation, Retrognathia, Abnormality of the middle ear ossicles, ... ORPHA:107
Fanconi Anemia, Complementation Group O
Hydronephrosis, Anal atresia, Cryptorchidism, Small thenar eminence, Stage 5 chronic kidney disea... OMIM:613390
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Partial duplication of the distal phalanx of the hallux, Choanal ... ORPHA:949
Meckel Syndrome 12
Antecubital pterygium, Low-set ears, Bifid uvula, Hypoplasia of the uterus, Micrognathia, Antever... OMIM:616258
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Long nose, Anal atresia, Abnormality of the kidney, Retrognat... ORPHA:363444
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... ORPHA:93409
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal toe morphology, Aplasia/Hypoplasia of the thumb, Abnormality of... OMIM:216100
Winchester Syndrome
Osteolysis involving tarsal bones, Arthropathy, Broad metacarpals, Carpal osteolysis OMIM:277950
Osebold-Remondini Syndrome
Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Broad toe, Short tibia... OMIM:112910
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Aplasia of metacarpal bones... OMIM:610797
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Morphological abnormality of the gastrointestin... ORPHA:1834
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Camptodactyly, Hip dislocation, Tapered finger, Brachydactyly, Shor... OMIM:618435
15Q24 Microdeletion Syndrome
Anal atresia, Cryptorchidism, Wide nasal base, Prominent nasal bridge, Microphallus, Myelomeningo... ORPHA:94065
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Single transverse palmar crease, Bicoronal synostosis, Low-set ears, Cryptorchidism, Camptodactyl... OMIM:619951
Pfeiffer Syndrome Type 3
Horseshoe kidney, Choanal atresia, Hearing impairment, Cleft palate, Toe syndactyly, Broad thumb,... ORPHA:93260
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Optic atrophy, Diaphyseal thickening, Stenosis of the external aud... ORPHA:1513
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, High palate, Broad nasal tip, Hypogonadism, Un... ORPHA:3306
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
High palate, Conductive hearing impairment, Joint contracture of the 5th finger, Underdeveloped n... OMIM:248910
Blepharo-Cheilo-Odontic Syndrome
Anal atresia, Conductive hearing impairment, Bilateral cleft lip and palate, Finger syndactyly, C... ORPHA:1997
Hadziselimovic Syndrome
Low-set ears, High palate, Anal atresia, Prominent nasal bridge, Posteriorly rotated ears, Anteve... OMIM:612946
Rhombencephalosynapsis
Abnormal renal morphology, Esophageal atresia, Low-set, posteriorly rotated ears, Anal atresia, P... ORPHA:59315
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Large joint dislocations, Flattened epiphysis, Irregular epiphyses, Metaphyseal irregularity, Sma... OMIM:603546
Williams-Beuren Region Duplication Syndrome
Chronic otitis media, Hydronephrosis, Cryptorchidism, High palate, Broad nasal tip, Hydrocephalus... OMIM:609757
Branchiootic Syndrome
Conductive hearing impairment, Abnormality of the inner ear, Atresia of the external auditory can... ORPHA:52429
Holzgreve Syndrome
Hand polydactyly, Renal agenesis, Renal hypoplasia, Cleft palate OMIM:236110
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, Horseshoe kidney, Microgastri... ORPHA:2538
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Increased size of the clitoris, Abnormal metacarpophalangeal joint morphology, A... ORPHA:95699
Congenital Heart Defects, Multiple Types, 4
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal de... OMIM:615779
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Underdeveloped nasal alae, Unilateral renal agen... OMIM:601355
Emanuel Syndrome
Inguinal hernia, Bifid uvula, Severe hearing impairment, Hearing impairment, Cleft palate, Crypto... ORPHA:96170
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Horseshoe kidney, Cleft palate, Patellar dislocation, Seborrheic de... OMIM:274000
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Holt-Oram Syndrome
Aplasia of the ulna, Limited elbow extension, Short humerus, Small thenar eminence, Absent radius... OMIM:142900
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Trisomy 1Q
Camptodactyly of finger, Ambiguous genitalia, Cleft palate, Toe syndactyly, Preaxial hand polydac... ORPHA:261344
Renpenning Syndrome
Anal atresia, Decreased testicular size, Round ear, Mandibular prognathia, Cleft palate, High, na... ORPHA:3242
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Moderate hearing impairment, Conductive hearing impairment, Pro... ORPHA:87884
Distal Deletion 13Q
Encephalocele, Anal atresia, Ambiguous genitalia, Renal hypoplasia/aplasia, Holoprosencephaly, Ab... ORPHA:1590
Frontonasal Dysplasia 1
Median cleft palate, Low-set ears, Broad nasal tip, Conductive hearing impairment, Camptodactyly,... OMIM:136760
Acrofacial Dysostosis 1, Nager Type
Hip dislocation, Cleft palate, Toe syndactyly, Short toe, Radial deviation of finger, Hypoplasia ... OMIM:154400
Abruzzo-Erickson Syndrome
Cryptorchidism, Conductive hearing impairment, Ulnar deviation of finger, Cleft palate, Brachydac... ORPHA:921
Feingold Syndrome Type 1
Abnormality of the kidney, Short thumb, Horseshoe kidney, Toe syndactyly, Hydronephrosis, Esophag... ORPHA:391641
Desmoid Disease, Hereditary
Colorectal polyposis, Desmoid tumors, Colon cancer OMIM:135290
Otofaciocervical Syndrome
Down-sloping shoulders, High palate, Conductive hearing impairment, Protruding ear, Abnormal anti... ORPHA:2792
Baller-Gerold Syndrome
Malabsorption, Cleft palate, Aplasia/Hypoplasia of the patella, Hydronephrosis, Conductive hearin... ORPHA:1225
Fraser Syndrome 2
Low-set ears, Anal atresia, Intestinal malrotation, Ambiguous genitalia, Rectal atresia, Underdev... OMIM:617666
Vacterl/Vater Association
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Occipital encephalocele, C... ORPHA:887
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Conductive hearing impairment, Genu varum, Metaphyseal cupping, Metaphyseal widening, Short ribs,... OMIM:250420
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Metacarpophalangeal synostosis, Carpal synostosis, Radial head subluxation, Apl... OMIM:186400
Acheiropody
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Acrodysostosis 1 With Or Without Hormone Resistance
Broad nasal tip, Short metatarsal, Hearing impairment, Epiphyseal stippling, Cone-shaped epiphyse... OMIM:101800
Smith-Magenis Syndrome
Abnormal renal morphology, Mandibular prognathia, Abnormality of the outer ear, Hearing impairmen... OMIM:182290
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short thumb, Hallux varus, Short metatarsal, Short metacarpal, Sh... OMIM:112450
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Abnormality of the middle ear ossicles, Mixed hearing impairment,... OMIM:609166
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid... ORPHA:90646
Pallister-Hall Syndrome
Oligodactyly, Hip dislocation, Y-shaped metacarpals, Hydroureter, Choanal atresia, Mesoaxial foot... OMIM:146510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Anal canal squamous cell carcinoma, Intestinal ble... ORPHA:424019
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Spina bifida, Finger syndactyly, Synosto... ORPHA:957
Schisis Association
Encephalocele, Anal atresia, Spina bifida, Cleft palate, Anencephaly, Omphalocele, Micromelia, Tr... ORPHA:63862
Orofaciodigital Syndrome Type 4
Abnormal joint morphology, Camptodactyly of finger, Microtia, third degree, Bifid uvula, Choanal ... ORPHA:2753
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Retrognathia, Short fourth metatarsal, Patellar hypoplasia, Anteverted nares, Sen... ORPHA:464288
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Cryptorchidism, High palate, Prominent nasal bridge, Camptodac... ORPHA:1703
Eiken Syndrome
Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Limited elb... ORPHA:79106
Vacterl With Hydrocephalus
Inguinal hernia, Hip dislocation, Microtia, third degree, Hypoplasia of the radius, Anotia, Esoph... ORPHA:3412
Ganglioneuroma
Multiple intestinal neurofibromatosis, Colorectal polyposis, Hamartomatous polyposis, Gastrointes... ORPHA:251992
Otopalatodigital Syndrome, Type I
Short distal phalanx of finger, Hip dislocation, Abnormality of the fifth metatarsal bone, Latera... OMIM:311300
Prune Belly Syndrome
Recurrent urinary tract infections, Anal atresia, Cryptorchidism, Decreased testicular size, Cong... ORPHA:2970
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Decreased testicular size, Mandibular prognathia, Macrotia, Hypoplasia of the maxilla ORPHA:93950
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Genu varum, Metaphyseal cupping, Hypoplastic scapulae, Short palm... ORPHA:85166
Diamond-Blackfan Anemia 11
Unilateral radial aplasia, Unilateral renal agenesis, Atresia of the external auditory canal, For... OMIM:614900
Bardet-Biedl Syndrome 16
Stage 5 chronic kidney disease, Hypogonadism, Renal cyst, External genital hypoplasia, Polydactyl... OMIM:615993
Van Maldergem Syndrome 2
Inguinal hernia, Hearing impairment, Cutaneous finger syndactyly, Wide cranial sutures, Cryptorch... OMIM:615546
Myoectodermal Gonadal Dysgenesis Syndrome
Hip dysplasia, Hypoplasia of the uterus, Clitoral hypoplasia, Single transverse palmar crease, Cu... OMIM:618419
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ambiguous genitalia, Horseshoe kidney, Hearing impairment, Anteverted ears, Cryptorchidism, Micro... OMIM:617641
Visceral Myopathy 2
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Hiatus hernia, Volvulus, Intestina... OMIM:619350
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Vaginal fistula, Horseshoe kidney, Simple ear, Low hanging columella OMIM:619318
Scimitar Syndrome
Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial sept... ORPHA:185
Oligomeganephronia
Renal tubular atrophy, Proteinuria, Dehydration, Stage 5 chronic kidney disease, Decreased glomer... ORPHA:2260
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Median cleft lip and palate, Horseshoe kidney, Bifid nasal tip, Bi... ORPHA:2213
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Avascular necrosis of the capital femoral epiphysis, Short metacarpal, Broa... OMIM:132400
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antitragus morphology, Conductive hearing impairment, Cryptorchidism, Abnormal antihelix... ORPHA:3082
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Camptodactyly of finger, Ventricular septal defect ORPHA:1937
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Inguinal hernia, Hypoplastic radial head, Proximal placement of thumb,... OMIM:122470
Chromosome 17Q12 Deletion Syndrome
Protruding ear, Long fingers, Multicystic kidney dysplasia, Aplasia of the uterus, Recurrent urin... OMIM:614527
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Tapered phalanx of finger, Rhizo-meso-acromelic limb shortening, Short metacarpal, Single interph... OMIM:611717
Chromosome 13Q33-Q34 Deletion Syndrome
Prominent metopic ridge, Short thumb, Penoscrotal transposition, Choanal atresia, Hearing impairm... OMIM:619148
Global Developmental Delay With Speech And Behavioral Abnormalities
Anal atresia, Cryptorchidism, Inguinal hernia, Hearing impairment, Recurrent otitis media, Microg... OMIM:619243
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Low-set ears, Cryptorchidism, Conductive hearing impairment, Polydactyly, Short nose, Hypoplastic... OMIM:616910
Bifid Nose With Or Without Anorectal And Renal Anomalies
Low-set ears, Anteriorly placed anus, Posteriorly rotated ears, Unilateral renal agenesis, Bifid ... OMIM:608980
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, Ventricular sept... OMIM:619702
Symphalangism, Proximal, 1A
Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, Metacarpophala... OMIM:185800
Cloacal Exstrophy
Hip dislocation, Horseshoe kidney, Hydroureter, Ureteropelvic junction obstruction, Intestinal du... ORPHA:93929
Lessel-Kubisch Syndrome
Renal insufficiency, Hypogonadism, Narrow nasal bridge, Renal hypoplasia OMIM:618681
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Aplasia/Hypoplasia of the inner ea... ORPHA:50815
Fanconi Anemia, Complementation Group L
Depressed nasal tip, Low-set ears, Esophageal atresia, Aplasia of the uterus, Micropenis, Anal at... OMIM:614083
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Aplasia/Hypoplas... OMIM:200700
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial metaphyseal i... ORPHA:457395
Vacterl Association With Hydrocephalus
Anal atresia, Radial club hand, Hydrocephalus, Aqueductal stenosis, Stillbirth, Absent thumb, Ren... OMIM:276950
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis, Ectopic anus, Sensorineural hearing impairment ORPHA:2866
Van Maldergem Syndrome 1
Radial head subluxation, Cutaneous finger syndactyly, Wide cranial sutures, Camptodactyly, Conduc... OMIM:601390
Sweeney-Cox Syndrome
Broad nasal tip, Prominent metopic ridge, Short distal phalanx of finger, Choanal atresia, Hearin... OMIM:617746
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis, Anal atresia, Inguinal hernia, Aganglionic megacolon OMIM:235760
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Down-sloping shoulders, Cryptorchidism, Kinetic tremor, Hearing impairment, Macrotia, Sensorineur... OMIM:616817
Multiple Synostoses Syndrome 2
Vertebral fusion, Proximal symphalangism, Finger symphalangism, Carpal synostosis, Humeroradial s... OMIM:610017
Pfeiffer Syndrome Type 2
Low-set ears, Anal atresia, High palate, Depressed nasal bridge, Hydrocephalus, Hallux varus, Aqu... ORPHA:93259
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Dumbbell-shaped femur, Irregular, rachitic-like metaphyses, Flat ac... OMIM:184252
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Broad nasal tip, Hydroureter, Labial hypoplasia, Toe syndactyly, Single transverse palmar crease,... OMIM:300707
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Broad nasal tip, Left unicoronal synostosis, Short nose, Aganglionic megacolon, Cle... OMIM:614749
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, High palate, Hip dislocation, Ivory epiphyses of the toes, Flattened epiphy... OMIM:226980
Verheij Syndrome
Broad nasal tip, Retrognathia, Hip dislocation, Vertebral fusion, Renal cyst, Short nose, Optic n... OMIM:615583
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the fibula, Abnormal thumb morp... ORPHA:2639
Distal Deletion 10Q
Prominent metopic ridge, Hip dislocation, Hip dysplasia, Protruding ear, Horseshoe kidney, Short ... ORPHA:96148
Xk Aprosencephaly Syndrome
Anal atresia, Polyhydramnios, Abnormal morphology of the radius, Abnormal external genitalia, Abn... ORPHA:3469
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Low-set ears, Cryptorchidism, Umbilical hernia, Renal insufficiency, Hypoplasia of penis, Renal d... ORPHA:85321
Microphthalmia, Syndromic 9
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Neonatal... OMIM:601186
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Short distal phalanx of finger, Cleft palate, Cupped ear, Overfolded helix, Anal stenosis, Hydron... OMIM:614080
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia, Optic nerve dysplasia, Duplication involving bones of the feet OMIM:246000
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of femur morphology, Anal atresia, Abnormal epiphysis morphology, Lower limb undergrowth ORPHA:2310
Fanconi Anemia, Complementation Group U
Absent radius, Ectopic kidney, Unilateral facial palsy, Aplasia of the 1st metacarpal, Hypoplasia... OMIM:617247
Radial-Renal Syndrome
External ear malformation, Absent radius, Ectopic kidney, Unilateral renal agenesis, Absent thumb OMIM:179280
Short-Rib Thoracic Dysplasia 12
Inguinal hernia, Ambiguous genitalia, Median cleft lip and palate, Short toe, Lobulated tongue, B... OMIM:269860
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Aplasia/Hypoplasia of the fibula, Brachydactyly, Fibular aplasia, Short phalanx of finger, Split ... OMIM:113310
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Rhizomelia, Short tibia, Unicoronal synostosis, Cleft palate, Bifid tongue, ... OMIM:616300
Johanson-Blizzard Syndrome
Hydronephrosis, Anal atresia, Anteriorly placed anus, Edema, Malabsorption, Short nose, Underdeve... ORPHA:2315
Carpenter Syndrome 1
Hydroureter, Preaxial foot polydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, T... OMIM:201000
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Anal atresia, Prune belly, Hypertrophy of the urinary bladder, Renal dysplasia, Omphalocele, Uret... OMIM:601389
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Genu varum, Metaphyseal widening, Broad femoral metaphyse... ORPHA:2502
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Dumbbell-shaped humerus, Abnormality of the humerus, Abnormality of fibu... ORPHA:1836
Deafness, Autosomal Dominant 23
Vesicoureteral reflux, Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Low-set ears, Retrognathia, Duodenal atresia, Unilateral renal agenesis, Subm... OMIM:619227
Seckel Syndrome 7
Hip dysplasia, Madelung deformity, Short middle phalanx of the 5th finger, Abnormal carpal morpho... OMIM:614851
Hypertelorism, Microtia, Facial Clefting Syndrome
Broad nasal tip, Small thenar eminence, Conductive hearing impairment, Ectopic kidney, Bifid nose... OMIM:239800
Fraser Syndrome 1
Cleft palate, Aplasia/Hypoplasia of the phalanges of the hand, Vaginal atresia, Cupped ear, Cutan... OMIM:219000
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Testicular seminoma, Hypogonadism, Renal insufficiency, Unilateral renal agenesis... ORPHA:281090
Anus, Imperforate
Anal atresia OMIM:207500
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Low-set ears, Anal atresia, Hydrocephalus, Missing ribs, Syndactyly, Cleft palate... OMIM:220210
Heyn-Sproul-Jackson Syndrome
Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx OMIM:618724
Down Syndrome
Macroglossia, Anal atresia, Conductive hearing impairment, Umbilical hernia, Short nose, Renal hy... ORPHA:870
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Avascular ... OMIM:611555
Hyperparathyroidism, Transient Neonatal
Metaphyseal spurs, Low-set ears, Inguinal hernia, Gastroesophageal reflux, Enlarged kidney, Commu... OMIM:618188
Phocomelia, Schinzel Type
Protruding ear, Cleft palate, Micromelia, Fibular aplasia, Radial bowing, Hypoplasia of the radiu... ORPHA:2879
Cat Eye Syndrome
Rectal fistula, Hydronephrosis, Low-set ears, Anal atresia, Intestinal malrotation, Absent radius... OMIM:115470
Townes-Brocks Syndrome 1
Overfolding of the superior helices, Metatarsal synostosis, Short metatarsal, Choanal atresia, Br... OMIM:107480
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Unilateral renal agenesis, Prune belly, Macrotia OMIM:618504
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Congenital hip dislocation, Pyloric stenosis, Atresia of the exter... OMIM:133705
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Long nose, Horseshoe kidney, Endometriosis, Unilateral renal ... OMIM:613680
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Anal atresia, Cryptorchidism, Inguinal hernia, Hip dysplasia, Abnormality of fibula morphology, A... ORPHA:2063
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Limited elbow extension, Low-set ears, Narrow pelvis bone, Overlapping toe, Sho... OMIM:616723
Spondylometaphyseal Dysplasia, Kozlowski Type
Short distal phalanx of finger, Short greater sciatic notch, Absent epiphyses of the phalanges of... ORPHA:93314
Coach Syndrome 1
Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Unilateral renal agenesis, Occipital e... OMIM:216360
3C Syndrome
Inguinal hernia, Cleft palate, Brachydactyly, Hydronephrosis, Hand polydactyly, Hydrocephalus, Sh... ORPHA:7
Cat-Eye Syndrome (Type I)
Anal atresia, Abnormal heart morphology DECIPHER:42
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... OMIM:612158
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... OMIM:616002
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia involving the nose, Polyhydramnio... ORPHA:3301
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anal atresia, Anteriorly placed anus, Absent radius, Aplasia/Hypoplasia of the thumb, Micrognathi... ORPHA:1352
Renal Coloboma Syndrome
Renal insufficiency, Hearing impairment, Renal dysplasia, Optic nerve dysplasia, Optic disc colob... ORPHA:1475
Codas Syndrome
Proximal placement of thumb, Absent epiphyses, Rectovaginal fistula, Short phalanx of finger, Cry... OMIM:600373
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial septal defect, B... OMIM:618719
Congenital Heart Defects, Multiple Types, 5
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... OMIM:617912
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Retrognathia, Hip dysplasia, Hydrocephalus, Postaxial polyda... OMIM:614576
Fg Syndrome Type 1
Inguinal hernia, Choanal atresia, Optic nerve hypoplasia, Cupped ear, Single transverse palmar cr... ORPHA:93932
Retinitis Pigmentosa
Conductive hearing impairment, Hypogonadism, Hypoplasia of penis, Anteverted nares, Sensorineural... ORPHA:791
Distal Duplication 15Q
Anal atresia, Cryptorchidism, High palate, Prominent nasal bridge, Camptodactyly of finger, Ompha... ORPHA:1707
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Absence of renal corticomedullary differentiation, Oligodactyly, Low-set ears, Broad nasal tip, R... OMIM:619758
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Esophageal atresia, Anal atresia, Hand polydactyly, Absent radius, Enlarged kidne... OMIM:314390
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Hip dislocation, Genu varum, Premature osteoarthritis, Metaphysea... ORPHA:93360
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Spastic Paraplegia 9A, Autosomal Dominant
Gastroesophageal reflux, Hiatus hernia, Urinary incontinence, Abnormal upper motor neuron morphol... OMIM:601162
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Retrognathia, Small thenar eminence, Joint contracture of the 5th finger, Umbili... OMIM:618914
Cardiomyopathy, Familial Hypertrophic, 4
Myopathy, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defect, ... OMIM:115197
Trisomy 8P
Nephrocalcinosis, Bifid uvula, Cleft palate, Single transverse palmar crease, Short 1st metacarpa... ORPHA:264450
Treacher Collins Syndrome 4
Choanal stenosis, Conductive hearing impairment, Micrognathia, Cleft palate OMIM:618939
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Abnormal hip bone morphology, Atresia of the external auditory can... ORPHA:3236
Cerebrofacioarticular Syndrome
Bilateral choanal atresia/stenosis, Camptodactyly, Conductive hearing impairment, Anteriorly plac... ORPHA:314679
Pseudotrisomy 13 Syndrome
Encephalocele, Low-set ears, Cryptorchidism, Anal atresia, Micropenis, Postaxial foot polydactyly... OMIM:264480
Multiple Synostoses Syndrome 1
Stapes ankylosis, Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Progressive... OMIM:186500
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Low-set ears, Anal atresia, Renal duplication, Polyhydramnios, Choanal atresia, Cleft palate, Ure... OMIM:270420
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Metaphyseal striations, Short femoral neck, Cubitus val... OMIM:608154
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Anal atresia, Rectal atresia, Hydrocephalus, Ectrodactyly, Oligohydramnios, Hypopla... ORPHA:3016
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Ureteral atresia, Unilateral renal agenesis, Short long bone, Talipes equinovar... OMIM:618845
Fraser Syndrome
Ambiguous genitalia, Urethral atresia, Abnormality of the middle ear, Vaginal atresia, Toe syndac... ORPHA:2052
Acromicric Dysplasia
Short phalanx of finger, Short metacarpal, Short long bone, Short palm, Fifth metacarpal with uln... OMIM:102370
Acromesomelic Dysplasia, Grebe Type
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia invo... ORPHA:2098
Acrootoocular Syndrome
Grayish enamel, Short toe, Supernumerary tooth, Pseudopapilledema, Palmar hyperkeratosis, Conduct... ORPHA:2980
Trisomy 12P
Anal atresia, Low-set ears, Abnormal antihelix morphology, Short nose, Cleft palate, Wide nasal b... ORPHA:1699
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Erysipelas, Protein-losing enteropathy, Narrow palate, Rectal prolapse, Cutaneo... OMIM:235510
Oculoskeletodental Syndrome
Conductive hearing impairment, Nephrocalcinosis, Retrognathia, Enamel hypoplasia, Hearing impairm... ORPHA:557003
Penile Agenesis
Rectal fistula, Ambiguous genitalia, Hydroureter, Urethral fistula, Unilateral renal hypoplasia, ... ORPHA:49
Takenouchi-Kosaki Syndrome
Clinodactyly, Hydronephrosis, Low-set ears, Cryptorchidism, Inguinal hernia, Camptodactyly, Proxi... OMIM:616737
Atrial Septal Defect 2
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula... OMIM:607941
Prune Belly Syndrome
Hydronephrosis, Anal atresia, Cryptorchidism, Congenital hip dislocation, Aplasia of the abdomina... OMIM:100100
Marden-Walker Syndrome
Low-set ears, Cryptorchidism, High palate, Micropenis, Pyloric stenosis, Inguinal hernia, Camptod... OMIM:248700
Fryns Syndrome
Short distal phalanx of finger, Cleft palate, Multicystic kidney dysplasia, Hydronephrosis, Low-s... ORPHA:2059
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Gastroesophageal reflux, Conductive hearing impairment, Anteverted nares, Choreoathetosis, Dystonia OMIM:618497
Mucolipidosis Ii Alpha/Beta
Mucopolysacchariduria, Inguinal hernia, Hip dislocation, Hip dysplasia, Enlarged kidney, Flared i... OMIM:252500
Stapes Ankylosis With Broad Thumbs And Toes
Long nose, Short distal phalanx of finger, Conductive hearing impairment, Stapes ankylosis, Under... OMIM:184460
Fanconi Anemia, Complementation Group F
Cryptorchidism, Conductive hearing impairment, Vesicoureteral reflux, Duodenal atresia, Microphal... OMIM:603467
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Flat acetabular roof, Delayed ossification of carpal bones, Broad t... OMIM:609616
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hearing impairment, Epiphyseal stippling, Single transverse palmar crease, Hypoplastic pelvis, Hy... OMIM:308050
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Cleft palate, Fibular aplasia, Overfolded helix, Multicystic kidney dysplasia, Anal ... OMIM:300373
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Braddock Syndrome
Missing ribs, Posteriorly rotated ears, Unilateral renal agenesis, Micrognathia, Preaxial hand po... ORPHA:52047
Ventricular Septal Defect 3
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Renal Agenesis
Proteinuria, Anal atresia, Renal insufficiency, Unilateral renal agenesis, Absent vas deferens, R... ORPHA:411709
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Atrial septal defect, Ventricular septal defect, ... ORPHA:216694
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Conductive hearing impairment, Anteri... ORPHA:1488
Ivic Syndrome
Anal atresia, Short thumb, Synostosis of carpal bones, Hearing impairment, Aplastic clavicle, Rad... ORPHA:2307
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Delayed ossification of carpal bones, Brachydactyly OMIM:618392
Caudal Regression Syndrome
Abnormal iliac wing morphology, Anal atresia, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, A... ORPHA:3027
Oeis Complex
Duplicated colon, Hydroureter, Labial hypoplasia, 11 pairs of ribs, Pelvic kidney, Rectovaginal f... OMIM:258040
Fryns Syndrome
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Rocker bottom foot, Cle... OMIM:229850
Iniencephaly
Encephalocele, Anal atresia, Low-set ears, Spinal dysraphism, Duodenal atresia, Hydrocephalus, Sp... ORPHA:63259
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Conductive hearing impairment, Protruding ear, Trismus, Hydroureter, Micrognathia, ... OMIM:616367
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus ar... OMIM:249670
Smith-Lemli-Opitz Syndrome
Hip dislocation, Bifid uvula, Ambiguous genitalia, Proximal placement of thumb, Short thumb, Uret... OMIM:270400
Distal Duplication 6P
Hydronephrosis, Low-set ears, Abnormal antitragus morphology, Prominent nasal bridge, Aplasia/Hyp... ORPHA:1745
Aortic Arch Interruption
Left ventricular hypertrophy, Ventricular septal defect, Aortopulmonary window, Abnormal heart mo... ORPHA:2299
Opitz-Kaveggia Syndrome
Inguinal hernia, Choanal atresia, Cleft palate, Broad thumb, Narrow palate, Simple ear, Single tr... OMIM:305450
Isolated Right Ventricular Hypoplasia
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... ORPHA:439
Oculoauriculofrontonasal Syndrome
Encephalocele, Conductive hearing impairment, Bifid nasal tip, Underdeveloped nasal alae, Cleft p... ORPHA:398156
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Short distal phalanx of finger, Polydactyly, Cleft palate, Micromeli... OMIM:614091
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Short thumb, Joint contracture of the 5th finger, Ulnar deviat... OMIM:194350
Cenani-Lenz Syndactyly Syndrome
Ectopic kidney, Syndactyly, Enamel hypoplasia, Radioulnar synostosis, Broad hallux, Hypoplasia of... OMIM:212780
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Inguinal hernia, Stage 5 c... OMIM:614376
Ulnar-Mammary Syndrome
Anal atresia, Cryptorchidism, Short distal phalanx of finger, Abnormality of the humerus, Pyloric... ORPHA:3138
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Short 1st metacarpal, Conductive hearing impairment, Short thumb, Hors... OMIM:609053
Developmental And Epileptic Encephalopathy 63
Bulbous nose, Overlapping toe, Conductive hearing impairment, Cleft palate OMIM:617976
Zechi-Ceide Syndrome
Low-set ears, Short distal phalanx of finger, Conductive hearing impairment, Abnormal helix morph... ORPHA:217017
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Short metatarsal, Capitate-hamate fusion, Short metacarpal, Osteoarthrit... OMIM:271650
Focal Facial Dermal Dysplasia 3, Setleis Type
Bulbous nose, Anal atresia, Depressed nasal bridge OMIM:227260
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Madelung deformity, Limited pronation/supination of forearm, Radial bowing DECIPHER:58
Heterotaxy, Visceral, 1, X-Linked
Single ventricle, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, ... OMIM:306955
Neurofaciodigitorenal Syndrome
Abnormal distal phalanx morphology of finger, Low-set ears, Abnormal antitragus morphology, Exter... ORPHA:2673
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Cryptorchidism, Anal atresia, Intestinal malrot... ORPHA:2166
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Abnormal morphology of ulna, Synostosis of carpal bones, Radial head s... ORPHA:2634
Pontocerebellar Hypoplasia, Type 11
Anal atresia, Dysphagia, Macrotia, Talipes equinovarus, Bulbous nose OMIM:617695
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Low-set ears, Anal atresia, Hip dislocation, Hip dysplasia, Bifid uvula, Postaxia... OMIM:300968
Kleefstra Syndrome Due To A Point Mutation
Uplifted earlobe, Anal atresia, Abnormality of the kidney, Inguinal hernia, Gastroesophageal refl... ORPHA:261652
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Broad nasal tip, Protruding ear, Chronic oral candidiasis, Optic nerve hypoplasia, Cone-shaped ep... ORPHA:221139
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon, Postaxial hand polydactyly, Sensorineural hearing impairment, Foot polydac... ORPHA:2155
Meier-Gorlin Syndrome 7
Clubbing, Choanal atresia, Hearing impairment, Cleft palate, Aplasia/Hypoplasia of the patella, P... OMIM:617063
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Short mandibular rami, Cle... OMIM:141400
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Cryptorchidism, Anal atresia, Congenital hip disloca... OMIM:236700
Cardiac Valvular Dysplasia 1
Mitral stenosis, Hypoplasia of right ventricle, Double inlet left ventricle, Pulmonic stenosis, A... OMIM:212093
Mckusick-Kaufman Syndrome
Hydronephrosis, Anal atresia, Cryptorchidism, High palate, Postaxial foot polydactyly, Hydrometro... ORPHA:2473
Short Stature, Microcephaly, And Endocrine Dysfunction
Long nose, Broad nasal tip, Cryptorchidism, Inguinal hernia, Micropenis, Prominent nasal bridge, ... OMIM:616541
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Anal atresia, Urogenital sinus anomaly, Hydroureter, Renal hypoplasia/aplasia, Ab... ORPHA:2973
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Cryptorchidism, Hypoplasia of penis, Genu valgum, Hypospadias ORPHA:1381
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Broad nasal tip, Cleft palate, Preaxial foot ... OMIM:252100
Tenosynovial Giant Cell Tumor
Chondrocalcinosis, Abnormality of the auditory canal, Conductive hearing impairment, Joint swelli... ORPHA:66627
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Short humerus, Asymmetric radial dysplasia, Abnormal antitragus morphology, Conductive hearing im... ORPHA:2878
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Camptodactyly, Perimembranous ventricular septal defect OMIM:618804
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Low-set ears, Conductive hearing impairment, Hip dysplasia, Mandibular prognathia, Anteverted nar... OMIM:618672
Renal Hypoplasia
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... ORPHA:93101
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Finger... OMIM:612576
Lumbar Syndrome
Anal atresia, Cryptorchidism, Renal duplication, Micropenis, Ambiguous genitalia, Spina bifida, M... ORPHA:83628
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Intellectual Developmental Disorder, Autosomal Dominant 36
Prominent metopic ridge, Hip dysplasia, Hydrocephalus, Postaxial polydactyly, Unilateral renal ag... OMIM:616362
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... OMIM:604169
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Flared iliac wing, Metaphyseal irregularity, Cone-shaped epiphyses of the phala... OMIM:300106
Dyggve-Melchior-Clausen Disease
Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral epiphyses,... OMIM:223800
Frontometaphyseal Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Bifid uvula, Short metatarsal, Metacarpo... ORPHA:1826
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Double inlet left ventricle, Atrial septal defect, Ventricular septal defect, Atrio... OMIM:270100
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, Abnormal renal collecting system morphology, Prominent metopic ridge, Op... ORPHA:468631
Developmental Delay With Or Without Dysmorphic Facies And Autism
Inguinal hernia, Hearing impairment, Cleft palate, Hydronephrosis, Cryptorchidism, Short nose, Wi... OMIM:618454
Sirenomelia
Anal atresia, Sirenomelia, Ambiguous genitalia, Spina bifida, Renal hypoplasia/aplasia, Absence o... ORPHA:3169
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Enlarged kidney, Cleft palate, Bifid tongue, Co... OMIM:613091
Townes-Brocks Syndrome 2
Anal atresia, Vesicoureteral reflux, Bifid uterus, Cupped ear, Spina bifida occulta, Overfolded h... OMIM:617466
Crouzon Syndrome
Multiple suture craniosynostosis, Conductive hearing impairment, Hydrocephalus, Choanal atresia, ... ORPHA:207
Fanconi Anemia
Abnormal renal morphology, Aplasia/Hypoplasia of the uvula, Hip dislocation, Hydroureter, Aplasia... ORPHA:84
Shashi-Pena Syndrome
Low-set ears, Broad nasal tip, Retrognathia, Posteriorly rotated ears, Unilateral renal agenesis,... OMIM:617190
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... ORPHA:988
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Coronal craniosynostosis, Hip dysplasia, Capitate-hamate fusion, Short m... OMIM:614078
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hip dislocation, Delayed ossification of carpal bones, Dislocated radial head, Patellar dislocati... OMIM:618395
Tricuspid Atresia
Hypoplasia of right ventricle, Ventricular septal defect, Atrial septal defect, Patent foramen ov... ORPHA:1209
Duplication Of Urethra
Unilateral renal hypoplasia, Coronal hypospadias, Uterus didelphys, Recurrent urinary tract infec... ORPHA:237
Joubert Syndrome 15
Micropenis, Ambiguous genitalia, Preaxial polydactyly, Nephronophthisis, Exencephaly OMIM:614464
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Hearing impairment, Cleft palate, Broad thumb, Partial duplicatio... OMIM:616331
Combined Oxidative Phosphorylation Deficiency 11
Renal cyst, Polyhydramnios, Renal insufficiency, Hearing impairment, Renal dysplasia, Neonatal de... OMIM:614922
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Protruding ear, Toe syndactyly, Camptodactyly of toe, Cryptorchidism, Hy... ORPHA:261337
Bladder Exstrophy And Epispadias Complex
Inguinal hernia, Anteriorly placed anus, Horseshoe kidney, Epispadias, Hydroureter, Unilateral re... OMIM:600057
7Q11.23 Microduplication Syndrome
Chronic otitis media, Broad nasal tip, Inguinal hernia, Abnormal columella morphology, Hearing im... ORPHA:96121
Saethre-Chotzen Syndrome
Hearing impairment, Cleft palate, Broad thumb, Narrow palate, Triphalangeal thumb, Bilateral sing... ORPHA:794
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Low-set ears, Inguinal hernia, Vesicoureteral reflux, Short nose, Metopic synosto... OMIM:613735
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Optic nerve aplasia, Posteriorly rotated ears, Underdeveloped nasal alae, Atresia... ORPHA:264200
Coffin-Siris Syndrome 6
Low-set ears, Broad nasal tip, Conductive hearing impairment, Retrognathia, Gastroesophageal refl... OMIM:617808
Congenital Myopathy 13
Low-set ears, Cryptorchidism, Conductive hearing impairment, High palate, Bilateral talipes equin... OMIM:255995
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Incomplete partition of the cochlea type II, Bifid uvula, Submucous cleft hard... OMIM:617660
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Muscular ventricular septal defect, Atrial septal defect OMIM:618354
Stromme Syndrome
Hydronephrosis, Low-set ears, Prominent nasal bridge, Duodenal atresia, Hydrocephalus, Preaxial p... OMIM:243605
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Synostosis of carpal bo... ORPHA:90650
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Anal atresia, Lop ear, Horseshoe kidney, Ectopic kidney, Renal insufficiency, Clitoral hypertroph... ORPHA:140952
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the wrist, Atresia of the external auditory canal, Cleft palate, Carpal synostosis... ORPHA:2010
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Flared iliac wing, Radial bowing, Hypo... OMIM:607778
Exstrophy-Epispadias Complex
Abnormal joint morphology, Abnormality of the kidney, Renal duplication, Inguinal hernia, Horsesh... ORPHA:322
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Hydrocephalus, Choanal atresia, Abnormal metacarpal morphology, In... ORPHA:93262
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Anal atresia, Prominent metopic ridge, Short middle phalanx of finger, Wide nasal bridge, Fused c... OMIM:309620
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Camptodactyly of finger, Conductive hearing impairment, Finger... ORPHA:246
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Broad nasal tip, Hydroureter, Broad distal phalanx of the toes, Cryptorchidism, Attached earlobe,... OMIM:619194
2Q37 Microdeletion Syndrome
Depressed nasal bridge, Conductive hearing impairment, Pyloric stenosis, Umbilical hernia, Underd... ORPHA:1001
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Ectopic anus, Cleft palate ORPHA:94066
Auriculocondylar Syndrome 3
Retrognathia, Bifid uvula, Glossoptosis, Stenosis of the external auditory canal, Micrognathia, B... OMIM:615706
Lateral Meningocele Syndrome
Low-set ears, Cryptorchidism, Conductive hearing impairment, High palate, Abnormality of the midd... ORPHA:2789
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Renal insufficiency, Unilateral renal agenesis, Clef... ORPHA:2237
Bartsocas-Papas Syndrome 1
Oligodactyly, Inguinal hernia, Ambiguous genitalia, Short thumb, Cleft palate, Cupped ear, Bilate... OMIM:263650
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Coxa valga, Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly OMIM:132450
Kapur-Toriello Syndrome
Low-set ears, Cryptorchidism, Conductive hearing impairment, Micropenis, Camptodactyly of finger,... OMIM:244300
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Conductive hearing impairment, Incomplete partition... OMIM:303110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Overfolded helix, Anal stenosis, Propor... ORPHA:280633
Solitary Rectal Ulcer Syndrome
Stercoral ulcer, Hematochezia, Rectal prolapse, Anal fissure ORPHA:209964
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Conductive hearing impairment, Prominent nasal bridge,... ORPHA:3440
12Q14 Microdeletion Syndrome
Prominent nasal bridge, Horseshoe kidney, Ectopic kidney, Wide nose, Tremor, Micrognathia, Intest... ORPHA:94063
Deafness-Ear Malformation-Facial Palsy Syndrome
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Abnormal a... ORPHA:3232
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Thick nasal alae, Flared nostrils, Cleft palate OMIM:619504
Cach Syndrome
Optic neuritis, Pancreatitis, Dysphagia, Oligohydramnios, Gonadal dysgenesis, Optic atrophy, Rena... ORPHA:135
Bardet-Biedl Syndrome 3
Brachydactyly, External genital hypoplasia, Renal hypoplasia, Postaxial polydactyly OMIM:600151
Trisomy 18
Camptodactyly of finger, Abnormal morphology of female internal genitalia, Choanal atresia, Abnor... ORPHA:3380
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Short humerus, High palate, Cryptorchidism, Conductive hearing impairment, Hip dislocation, Rhizo... OMIM:602471
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Abnormal renal morphology, Broad nasal tip, Short distal phalanx of finger, Anteriorly placed anu... OMIM:239300
Trichorhinophalangeal Syndrome Type 2
Recurrent urinary tract infections, Low-set, posteriorly rotated ears, Conductive hearing impairm... ORPHA:502
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Broad nasal tip, Inguinal hernia, Hydroureter, Choanal atresia, Cleft palate, Toe syndactyly, Car... OMIM:129900
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Pneumonia ORPHA:85179
Birk-Landau-Perez Syndrome
Dystonia, Tubulointerstitial nephritis, Renal insufficiency, Optic atrophy, Stage 3 chronic kidne... OMIM:617595
Blepharocheilodontic Syndrome 1
Anal atresia, Choanal atresia, Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Conductive hearing impairment, Abnormal metaphysis morphology,... ORPHA:1522
Ramon Syndrome
Conductive hearing impairment, Narrow palate, Delayed eruption of teeth, Sensorineural hearing im... ORPHA:3019
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... OMIM:618270
Phaver Syndrome
Low-set ears, Camptodactyly of finger, Conductive hearing impairment, Ulnar deviation of finger, ... ORPHA:2876
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, High palate, Anal atresia, Hip dysplasia, Hydrocephalus, Umbilical hernia, Posterio... OMIM:612582
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short thumb, Short metatarsal, Short metacarpal, Broad metacarpals, Genu recurvatu... OMIM:151200
Spondylometaphyseal Dysplasia, Algerian Type
Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral metaphysis, Short tubu... OMIM:184253
Radial Aplasia, X-Linked
Anal atresia, Absent radius, Penile hypospadias, Hydrocephalus OMIM:312190
Opitz Gbbb Syndrome
Low-set ears, Cryptorchidism, Anal atresia, Micropenis, Rectourethral fistula, High palate, Ingui... OMIM:300000
Apert Syndrome
Bifid uvula, Choanal atresia, Cleft palate, Micromelia, Toe syndactyly, Narrow palate, Broad thum... ORPHA:87
Leopard Syndrome 1
Low-set ears, Cryptorchidism, Hypoplasia of the ovary, Micropenis, Protruding ear, Missing ribs, ... OMIM:151100
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Synostosis of carpal bones, High, narrow palate, Short palm, Failu... ORPHA:3238
Acrocallosal Syndrome
Inguinal hernia, Bifid uvula, Hearing impairment, Cleft palate, Toe syndactyly, Preaxial foot pol... OMIM:200990
Atresia Of External Auditory Canal And Conductive Deafness
Aplasia/Hypoplasia of the middle ear, Atresia of the external auditory canal, Conductive hearing ... OMIM:108760
Feingold Syndrome 2
Intestinal atresia, Ventricular septal defect OMIM:614326
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hydronephrosis, Anal atresia, Communicating hydrocephalus, Poste... ORPHA:1780
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Abnormality of the gastrointestinal tract, Esophageal neoplasm, Gastroint... ORPHA:2869
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Cleft palate, Absent nasal bridge, Uterus didelphys, Micropenis, Esophageal divertic... OMIM:617925
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Hypoplasia of the uterus, Optic nerve hypoplasia, Vaginal atresia, Bilateral r... OMIM:617914
Postaxial Acrofacial Dysostosis
Midgut malrotation, Low-set ears, Abnormality of the kidney, Conductive hearing impairment, Micro... OMIM:263750
Tetraamelia Syndrome 1
Low-set ears, Anal atresia, Hypoplastic pelvis, Hydrocephalus, Hypoplasia of the fallopian tube, ... OMIM:273395
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Cleft palate, Single transverse palmar crease, Hydronephrosis, Camptodactyly, Cryptor... OMIM:611209
Opitz Gbbb Syndrome
Inguinal hernia, Prominent metopic ridge, Ankyloglossia, Hearing impairment, Cleft palate, Hydron... ORPHA:2745
Pallister-Hall Syndrome
Oligodactyly, Inguinal hernia, Hip dislocation, Bifid uvula, Ambiguous genitalia, Mesoaxial polyd... ORPHA:672
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Atresia of the external auditory canal, Conductive hearing impairment, Clin... OMIM:221320
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Tarsal synostosis, Radial bowing OMIM:156232
Desbuquois Dysplasia 1
Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short metatarsal, A... OMIM:251450
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Short distal phalanx of finger, Camptodactyly of finger, Finge... ORPHA:2994
Congenital Tufting Enteropathy
Anal atresia, Dehydration, Malabsorption, Steatorrhea, Villous atrophy, Choanal atresia, Arthriti... ORPHA:92050
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Short nose, Micrognathia, Anteriorly displaced urethral meatus, Hydrocele testi... OMIM:266810
Johnson Neuroectodermal Syndrome
Hand polydactyly, Conductive hearing impairment, Protruding ear, Hypogonadism, Choanal atresia, A... ORPHA:2316
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Abnormal pinna morphology, Fused cervical vertebrae, Cleft palate,... OMIM:214300
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Anal atresia, Broad nasal tip, Delayed ossification of carpal bones, Coxa valga, Dislocated radia... OMIM:617425
Orofaciodigital Syndrome Vi
Broad nasal tip, Cleft palate, Preaxial foot polydactyly, Toe syndactyly, Fibular aplasia, Preaxi... OMIM:277170
Larsen-Like Syndrome
Low-set ears, Conductive hearing impairment, Radial deviation of the 4th finger, Joint dislocatio... OMIM:608545
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Camptodactyly, Retrognathia, Prominent nasal bridge, Micrognathia, Rocker bottom foot, Aminoacidu... OMIM:604273
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Dyrk1A-Related Intellectual Disability Syndrome
Protruding ear, Polydactyly, Acromesomelia, Toe syndactyly, Pelvic kidney, Hydronephrosis, Crypto... ORPHA:464306
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Short thumb, Keratoconjunctivitis sicca, Choanal atresia, Toe syndactyly, Cupped ear... ORPHA:2363
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Inguinal hernia, Cleft palate, Long fingers, Overlapping toe, Short nose, Wide nasal bridge, Hype... OMIM:213980
Cdags Syndrome
Anal atresia, Coronal craniosynostosis, Rectourethral fistula, Short ribs, Short clavicles, Cleft... OMIM:603116
Congenital Tracheomalacia
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... ORPHA:95430
Acro-Renal-Ocular Syndrome
Short thumb, Horseshoe kidney, Toe syndactyly, Short hallux, Preaxial hand polydactyly, Triphalan... ORPHA:959
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Oculopharyngodistal Myopathy 3
Tremor, Conductive hearing impairment, Sensorineural hearing impairment, Dysphagia OMIM:619473
Lateral Meningocele Syndrome
Low-set ears, Cryptorchidism, Conductive hearing impairment, High palate, Abnormality of the midd... OMIM:130720
Cleft Velum
Aspiration pneumonia, Conductive hearing impairment, Recurrent otitis media, Velopharyngeal insuf... ORPHA:99772
Acrocardiofacial Syndrome
Split foot, Low-set ears, Cryptorchidism, Anal atresia, Camptodactyly of finger, Hallux valgus, F... ORPHA:2008
Radiation Proctitis
Rectal fistula, Hematochezia, Intestinal obstruction, Rectal abscess, Abnormal gastrointestinal v... ORPHA:70475
Focal Facial Dermal Dysplasia Type Iii
Anal atresia, Abnormal sacroiliac joint morphology, Wide nasal bridge, Depressed nasal ridge, Abn... ORPHA:1807
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Ophthalmomandibulomelic Dysplasia
Elbow dislocation, Camptodactyly of finger, Synostosis of carpal bones, Radioulnar synostosis, Ra... ORPHA:2741
Kniest Dysplasia
Inguinal hernia, Conductive hearing impairment, Hip dislocation, Dumbbell-shaped femur, Genu varu... OMIM:156550
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara, Brachydactyly OMIM:601438
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Congenital Myopathy 17
Clinodactyly, Hydronephrosis, Low-set ears, High palate, Overlapping toe, Polyhydramnios, Uretero... OMIM:618975
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal tubular atrophy, Chronic kidney disease, Focal segmental glomerulosclerosis, T... OMIM:613092
Ehlers-Danlos Syndrome, Classic-Like
Joint subluxation, Hiatus hernia, Unilateral renal agenesis, Bicornuate uterus, Vesicoureteral re... OMIM:606408
Orofaciodigital Syndrome Type 6
Broad nasal tip, Mesoaxial polydactyly, Cleft palate, Bilateral cryptorchidism, Lobulated tongue,...