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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
Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur... OMIM:186550
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Brachydactyly, Type A1, D
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... OMIM:616849
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Arthropathy, Short middle phalanx of finger, Radial deviation of finger, ... OMIM:606835
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... ORPHA:968
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Lowe-Kohn-Cohen Syndrome
Nephropathy, Sensorineural hearing impairment, Anorectal anomaly, Anal atresia ORPHA:2408
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis, Hearing impairment OMIM:235740
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... OMIM:105835
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Anus, Imperforate
Ectopic anus, Hypospadias, Anal atresia, Hearing impairment OMIM:301800
Pseudoachondroplasia
Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Increased laxity of ankles... ORPHA:750
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... ORPHA:93351
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Unilateral renal agenesis, Neonatal death, Anal atresia, Persistent cloaca OMIM:615709
Deafness, Conductive, With Malformed External Ear
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... OMIM:221300
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Burn-Mckeown Syndrome
Mandibular prognathia, Inguinal hernia, Choanal atresia, Unilateral renal agenesis, Micrognathia,... OMIM:608572
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Single transverse palmar crease, Renal cyst, Choanal stenosis, Multinucleated neuron, Clinodactyl... OMIM:236500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Micrognathia, Ectopic kidney, Cleft palate, Hypoplasia... OMIM:601076
Distal Deletion 10P
Low-set, posteriorly rotated ears, Hypoplasia of penis, Bilateral single transverse palmar crease... ORPHA:1580
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Depressed nasal bridge, Unilateral renal agenesis, Chronic kidney d... OMIM:617661
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints... OMIM:186570
Orofaciodigital Syndrome Xvii
Prominent metopic ridge, Prominent nose, Short middle phalanx of the 2nd finger, High, narrow pal... OMIM:617926
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Aplasia/Hypoplasi... ORPHA:1112
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab... OMIM:617974
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Conductive hearing impai... ORPHA:1307
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Renal hypoplasia/aplasia, Crypt... ORPHA:2863
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Branchiootorenal Syndrome 1
Branchial cyst, Congenital hip dislocation, High palate, Vesicoureteral reflux, Conductive hearin... OMIM:113650
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Bresek Syndrome
Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Convex nasal ridge, ... ORPHA:85284
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hip dysplasia, Hydronephrosis, Anal at... ORPHA:195
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... OMIM:218600
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Microgna... ORPHA:171839
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Depressed nasal bridge, Polyhydra... ORPHA:2256
Isolated Klippel-Feil Syndrome
Spina bifida, Renal hypoplasia/aplasia, Cleft palate, Abnormal cranial nerve morphology, Abnormal... ORPHA:2345
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Bardet-Biedl Syndrome 19
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, External genital hypoplas... OMIM:615996
Distal Symphalangism
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... ORPHA:3248
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Meier-Gorlin Syndrome 8
Micrognathia, Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Microtia, Low-... OMIM:617564
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Overhanging nasal tip, Posteriorly rotated ears, Overlapping toe, Unila... OMIM:618494
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Overlapping toe, Depressed nasal bridge, Unilateral renal agenesis, ... OMIM:618142
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma... ORPHA:1275
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Pseudoachondroplasia
Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fragmente... OMIM:177170
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... ORPHA:3237
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Abnormality of the middle ear ossic... ORPHA:2549
Even-Plus Syndrome
Epiphyseal dysplasia, Recurrent urinary tract infections, Bifid nasal tip, Depressed nasal ridge,... OMIM:616854
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... ORPHA:3250
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Renal hypopl... OMIM:246560
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Anosmia, Cleft palate, ... OMIM:244200
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis, Anal atresia, Oligohydramnios OMIM:274265
Renal, Genital, And Middle Ear Anomalies
Renal hypoplasia/aplasia, Vaginal atresia, Hearing impairment, Abnormality of the middle ear ossi... OMIM:267400
Emanuel Syndrome
Congenital hip dislocation, Micrognathia, High palate, Micropenis, Cryptorchidism, Renal hypoplas... OMIM:609029
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Mi... ORPHA:245
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Overfolded hel... ORPHA:79113
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita... OMIM:276820
Winchester Syndrome
Arthropathy, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis OMIM:277950
46,Xy Sex Reversal 4
Renal dysplasia, Distal symphalangism, Hypergonadotropic hypogonadism, Anteverted nares, Microgna... OMIM:154230
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... OMIM:610797
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb... OMIM:216100
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... OMIM:607323
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Bor Syndrome
Ureteropelvic junction obstruction, Branchial cyst, Renal insufficiency, Multicystic kidney dyspl... ORPHA:107
Arthrogryposis, Distal, Type 2B2
Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Shor... OMIM:618435
Acrocraniofacial Dysostosis
Micrognathia, Abnormality of the malleus, Triphalangeal thumb, Conductive hearing impairment, Adv... ORPHA:949
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Chromosome 3Pter-P25 Deletion Syndrome
Prominent metopic ridge, Overlapping toe, Anteverted nares, Postaxial polydactyly, Micrognathia, ... OMIM:613792
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Abnormality of the kidney, Unilateral renal agenesis, Sensorineural hea... OMIM:118100
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidi... OMIM:613390
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Desmoid Disease, Hereditary
Colorectal polyposis, Colon cancer, Desmoid tumors OMIM:135290
Pfeiffer Syndrome Type 3
Aqueductal stenosis, High palate, Vesicoureteral reflux, Finger syndactyly, Broad hallux phalanx,... ORPHA:93260
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
15Q24 Microdeletion Syndrome
Brachydactyly, Hypospadias, Depressed nasal bridge, Proximal placement of thumb, Prominent nasal ... ORPHA:94065
Craniodiaphyseal Dysplasia
Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Conductive hearing impairment, Stenosis... ORPHA:1513
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Carious teeth, Bilateral cleft lip and palate, Conductive hearing impairment, ... ORPHA:1997
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Posteriorly rotated ears, Single transverse palmar crease, Unilateral renal agenes... OMIM:619951
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Unilateral renal agenesis, Broad nasal tip, Precocious puberty... ORPHA:3306
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Hadziselimovic Syndrome
Posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Renal hypoplasia, High palate... OMIM:612946
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Micrognathia, Underdeveloped nasal alae, Wide nasal bridge, Short foot, Microtia, High palate, Cl... OMIM:248910
Branchiootic Syndrome
Branchial fistula, Facial palsy, Micrognathia, Sensorineural hearing impairment, Abnormality of t... ORPHA:52429
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... OMIM:603546
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Holzgreve Syndrome
Hand polydactyly, Renal agenesis, Renal hypoplasia, Cleft palate OMIM:236110
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Micrognathia, Broad nasal tip, Cryptorchidism, Hydrocephalus, High pal... OMIM:609757
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... OMIM:615779
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Septo-optic dysplasia, A... ORPHA:59315
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, High, narrow palate, Femoral bowing, Anteriorly placed anus, Abnormal ovarian... ORPHA:95699
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Edema of the dorsum of hands, Fe... OMIM:274000
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Meckel Syndrome 12
Anteverted nares, Ureteral hypoplasia, Rocker bottom foot, Micrognathia, Renal hypoplasia, Antecu... OMIM:616258
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Abnormality of the knee, Renal hypoplasia/aplasia, Micrognathia, Missing ribs, Hydro... ORPHA:1834
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... ORPHA:2639
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Frontonasal Dysplasia 1
Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand polydactyly, Hypoplas... OMIM:136760
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Renpenning Syndrome
Mandibular prognathia, Hypospadias, Prominent nose, Abnormal thumb morphology, High, narrow palat... ORPHA:3242
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... ORPHA:1836
Trisomy 1Q
Small scrotum, Polyhydramnios, Hydrops fetalis, Microretrognathia, Multicystic kidney dysplasia, ... ORPHA:261344
Eiken Syndrome
Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Short toe, D... ORPHA:79106
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo... OMIM:154400
Emanuel Syndrome
Congenital hip dislocation, Micrognathia, High palate, Micropenis, Bifid uvula, Cryptorchidism, R... ORPHA:96170
Otofaciocervical Syndrome
Scapular winging, Anteverted nares, Down-sloping shoulders, Depressed nasal bridge, Renal hypopla... ORPHA:2792
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... ORPHA:1225
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... ORPHA:90646
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... OMIM:250420
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Coronal hypospadias, Sensorineural hearing impairment, Short toe, Cr... ORPHA:921
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Underdeveloped nasal alae, Cleft palate, Hydranencephaly, Short distal... OMIM:601355
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela... OMIM:132400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Symphalangism, Proximal, 1A
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... OMIM:185800
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Heart-Hand Syndrome, Spanish Type
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly OMIM:140450
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Polyhydramnios, Ectopic kidney, Abno... ORPHA:887
Fraser Syndrome 2
Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasa... OMIM:617666
Feingold Syndrome Type 1
Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the ... ORPHA:391641
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800
Pallister-Hall Syndrome
Ectopic kidney, Renal cyst, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Micropenis... OMIM:146510
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... OMIM:615993
Schisis Association
Omphalocele, Encephalocele, Renal agenesis, Micromelia, Spina bifida, Anencephaly, Tracheoesophag... ORPHA:63862
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Unilateral renal agenesis, Absent thumb, Unilater... OMIM:614900
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size, Anal atresia ORPHA:93950
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Global Developmental Delay With Speech And Behavioral Abnormalities
Inguinal hernia, Micrognathia, Precocious puberty, Cryptorchidism, Recurrent otitis media, Anal a... OMIM:619243
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Ant... ORPHA:1703
Scimitar Syndrome
Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphragm morphology, Paten... ORPHA:185
Oculogastrointestinal Neurodevelopmental Syndrome
Simple ear, Horseshoe kidney, Vaginal fistula, Anal atresia, Low hanging columella OMIM:619318
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Anteverted nares, Eczema, Cryptorchidism, Sensorineural hearing impairme... ORPHA:464288
Van Maldergem Syndrome 2
Bifid scrotum, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Anteriorly place... OMIM:615546
Myoectodermal Gonadal Dysgenesis Syndrome
Single transverse palmar crease, Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Go... OMIM:618419
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Anteverted ears, Vesicoureteral reflux, Thickened helices, Micropenis, Anteverted... OMIM:617641
Orofaciodigital Syndrome Type 4
Joint dislocation, Micromelia, Micrognathia, High, narrow palate, Abnormality of the ear, Depress... ORPHA:2753
Oligomeganephronia
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Micrognathia, Abnorm... ORPHA:2260
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Hypertelorism-Microtia-Facial Clefting Syndrome
Thenar muscle atrophy, Bifid nasal tip, Horseshoe kidney, Microtia, Atresia of the external audit... ORPHA:2213
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Renal hypoplasia/aplasia... ORPHA:1590
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Phocomelia, Microgastria, Multicystic kidney dysplasia, Aplastic clav... ORPHA:2538
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Anteverted nares, Single interphalangeal crease of fifth finger, Depressed nasa... OMIM:611717
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... ORPHA:424019
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Single transverse palmar crease, Micrognathia, Anteriorly placed anus, High palate... OMIM:619148
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Narrow nasal br... ORPHA:3082
Vacterl With Hydrocephalus
Polyhydramnios, Micrognathia, Aqueductal stenosis, Anotia, Abnormal fallopian tube morphology, Ab... ORPHA:3412
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Micrognathia, Renal cyst, Protruding ear, High palate, Short palm, Long to... OMIM:614527
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Posteriorly rotated ears, Unilateral renal agenesis, Precocious puberty, Bulbous ... OMIM:608980
Cloacal Exstrophy
Hypoplasia of penis, Ectopic kidney, Abnormal tibia morphology, Abnormality of the clitoris, Uret... ORPHA:93929
Heyn-Sproul-Jackson Syndrome
Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals OMIM:618724
Lessel-Kubisch Syndrome
Narrow nasal bridge, Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:618681
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia, Aganglionic megacolon, Hydronephrosis, Anal atresia OMIM:235760
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Sensorineural hearing impairment, Ectopic anus, Craniosynostosis ORPHA:2866
Distal Deletion 10Q
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Func... ORPHA:96148
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tibial metaphyseal irregularity, Abnormality of the ear, Coxa vara, Flat... ORPHA:457395
Van Maldergem Syndrome 1
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneo... OMIM:601390
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... ORPHA:251992
Seckel Syndrome 7
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, Sh... OMIM:614851
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Broad hallux, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Shortenin... OMIM:614749
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Single transverse palmar crease, 3-5 toe syndactyly, Clinodactyly of the 5th finger, Vesicoureter... OMIM:300707
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Micrognathia, Absent thumb, Absent radius, Esophag... OMIM:614083
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Depressed nasal bridge, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearin... OMIM:616910
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Depressed nasal bridge, Irregular, rachitic-like metaphyses, Hypoplasia of the o... OMIM:184252
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Ectopic kidney, Micrognathia, Proximal placement of ... OMIM:122470
Verheij Syndrome
Branchial cyst, Vertebral fusion, Renal agenesis, Anteverted nares, Optic nerve hypoplasia, Broad... OMIM:615583
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Renal insufficiency, Shortening of all middle phalanges of the fingers, Ivo... OMIM:226980
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... ORPHA:93259
Leg, Absence Deformity Of, With Congenital Cataract
Duplication involving bones of the feet, Optic nerve dysplasia, Anal atresia OMIM:246000
Absence Deformity Of Leg-Cataract Syndrome
Abnormal epiphysis morphology, Anal atresia, Abnormal femur morphology, Lower limb undergrowth ORPHA:2310
Vacterl Association With Hydrocephalus
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Stillbirth,... OMIM:276950
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Abnormal external genitalia, Polyhydramnios, Abnormal nostril ... ORPHA:3469
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Down-sloping shoulders, Micrognathia, Cryptorchidism, Sensorineural hearing impai... OMIM:616817
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, Polyhydramnios, Bilateral cryptorchidism, High palate, 2-5 toe sy... OMIM:617746
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar... OMIM:617247
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic... OMIM:601186
Radial-Renal Syndrome
Unilateral renal agenesis, Absent thumb, External ear malformation, Absent radius, Ectopic kidney OMIM:179280
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Ure... OMIM:601389
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,... OMIM:616300
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Renal insufficiency, Hypoplasia of penis, Micrognathia, Cryptorchidism, Sensorineu... ORPHA:85321
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp... OMIM:201000
Down Syndrome
Brachydactyly, Sandal gap, Aganglionic megacolon, Depressed nasal bridge, Renal hypoplasia/aplasi... ORPHA:870
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Edema, Malabsorption, Underdeveloped... ORPHA:2315
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... OMIM:609616
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment, Vesicoureteral reflux OMIM:605192
Short-Rib Thoracic Dysplasia 12
Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Holoprosencephaly, Short palm, Neona... OMIM:269860
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Polyhydramnios, Micrognathia, Tremor, Choreoathetosis, Large fleshy ears, H... OMIM:614080
Hypertelorism, Microtia, Facial Clefting Syndrome
Micrognathia, Ectopic kidney, Broad nasal tip, 2-3 toe syndactyly, Cleft palate, Small thenar emi... OMIM:239800
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, Beta 2-microg... OMIM:611555
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Hy... ORPHA:2879
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Renal agenesis, Choanal atresia, Unilateral renal agenesis, Esophageal atresia, Submuc... OMIM:619227
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Depressed nasal bridge, Micrognathia, Missing ribs, Hydrocephalus, Cleft... OMIM:220210
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Endometriosis, Micrognathia, Unilateral renal agenesis, Long ... OMIM:613680
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Overlapping toe, Depressed nasal bridge, Craniosynosto... OMIM:616723
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Inguinal hernia, Posteriorly rotated ears, Micrognathia, Cryptorchidism,... ORPHA:2063
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Abnormal metatarsal morphology, Flat capital femoral epiphysis, Hip subluxa... ORPHA:93360
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Optic disc pallor, Anteverted nares, Unilateral renal age... OMIM:216360
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... ORPHA:1352
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Cryptorchidism, Macrotia, Micropenis, Prune belly OMIM:618504
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Congenital hip dislocation, Rocker bottom foot, Single transverse palmar crease, Pyloric stenosis... OMIM:133705
Acromicric Dysplasia
Short metacarpal, Short foot, Cone-shaped epiphysis, Short long bone, Short palm, Fifth metacarpa... OMIM:102370
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Short femoral n... OMIM:608154
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Abno... ORPHA:281090
Cat Eye Syndrome
Anal stenosis, Renal agenesis, Intestinal malrotation, Micrognathia, Absent radius, Rectal fistul... OMIM:115470
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Glue ear, Absence of renal corticomedullary differentiation, Broad nasal tip, Bifid nasal tip, Re... OMIM:619758
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... ORPHA:2476
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
3C Syndrome
Hypoplasia of penis, Micrognathia, High, narrow palate, Finger syndactyly, Hypospadias, Depressed... ORPHA:7
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Cupped ear, Renal hypoplasia, 2... OMIM:618914
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Polyh... ORPHA:3301
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... ORPHA:1350
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral reflux, 2... OMIM:107480
Distal Duplication 15Q
Omphalocele, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Crypt... ORPHA:1707
Treacher Collins Syndrome 4
Conductive hearing impairment, Choanal stenosis, Cleft palate, Micrognathia OMIM:618939
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... OMIM:115197
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of ... ORPHA:3236
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Conductive hearing impai... OMIM:600373
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Cerebrofacioarticular Syndrome
Syndactyly, Anal stenosis, Hypospadias, Micrognathia, Lymphedema, Hypoplasia of the maxilla, Bila... ORPHA:314679
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Unilateral renal agenesis, Hydrocephalus, Esophageal varix, Optic atrophy,... OMIM:614576
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Wide cranial sutures, Short femur, Inguinal hernia, Metaphyseal spur... OMIM:618188
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... OMIM:194350
Trisomy 12P
Micrognathia, Wide nasal bridge, Cleft palate, Abnormal antihelix morphology, Large hands, Abnorm... ORPHA:1699
Cat-Eye Syndrome (Type I)
Anal atresia, Micrognathia DECIPHER:42
Acrootoocular Syndrome
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Cond... ORPHA:2980
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Cleft ala nasi, Urethral atresia, High palate, Conductive hea... ORPHA:2052
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Unilateral renal agenesis, Ureteral atresia, Short long bone, Bilateral renal a... OMIM:618845
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophageal atresia, Hy... OMIM:314390
Trisomy 8P
Short fourth metatarsal, Single transverse palmar crease, Fetal pyelectasis, Nephrocalcinosis, Cl... ORPHA:264450
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ... OMIM:184460
Retinitis Pigmentosa
Hypoplasia of penis, Anteverted nares, Sensorineural hearing impairment, Optic atrophy, Wide nasa... ORPHA:791
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal... OMIM:271650
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Polyhydramnios, Choanal atresia, Optic disc colobom... OMIM:270420
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Omphalocele, Encephalocele, Renal agenesis, Posteriorly rotated ears, Cryptorch... OMIM:264480
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Fg Syndrome Type 1
Single transverse palmar crease, Micrognathia, Prominent nose, High palate, Finger syndactyly, Hy... ORPHA:93932
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Depressed nasal bridge, Sensorineural hearing impairment, Enamel hypoplasi... ORPHA:557003
Takenouchi-Kosaki Syndrome
Inguinal hernia, Hypospadias, Posteriorly rotated ears, Unilateral renal agenesis, Proximal place... OMIM:616737
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Cryptorchidism, Xerostomia, Aplasia of the abdominal wal... OMIM:100100
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Proximal placement ... ORPHA:1488
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe, Limited elbo... OMIM:614078
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... ORPHA:2307
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Braddock Syndrome
Posteriorly rotated ears, Unilateral renal agenesis, Micrognathia, Missing ribs, Preaxial hand po... ORPHA:52047
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Mucolipidosis Ii Alpha/Beta
Micrognathia, Metaphyseal widening, Anteverted nares, Depressed nasal bridge, Hypoplasia of the o... OMIM:252500
Renal Agenesis
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... ORPHA:411709
Spastic Paraplegia 9A, Autosomal Dominant
Resting tremor, Urinary incontinence, Hiatus hernia, Urinary urgency, Abnormal pelvic girdle bone... OMIM:601162
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus,... OMIM:616367
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Iniencephaly
Omphalocele, Encephalocele, Rhizomelia, Renal agenesis, Rocker bottom foot, Polyhydramnios, Spina... ORPHA:63259
Oculoauriculofrontonasal Syndrome
Encephalocele, Wide nose, Micrognathia, Underdeveloped nasal alae, Bifid nasal tip, Cleft palate,... ORPHA:398156
Fanconi Anemia, Complementation Group F
Pneumonia, Polyhydramnios, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, 2... OMIM:603467
Distal Duplication 6P
Prominent nasal bridge, Micrognathia, Aplasia/Hypoplasia of the earlobes, Renal hypoplasia, Abnor... ORPHA:1745
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hallux, Micrognathia, Ectopic kidney, H... OMIM:212780
Focal Facial Dermal Dysplasia 3, Setleis Type
Bulbous nose, Depressed nasal bridge, Anal atresia OMIM:227260
Oeis Complex
Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambi... OMIM:258040
Fryns Syndrome
Polyhydramnios, Micrognathia, High palate, Clinodactyly of the 5th finger, Vesicoureteral reflux,... ORPHA:2059
Heterotaxy, Visceral, 1, X-Linked
Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M... OMIM:306955
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Micrognathia, Osteopathia striata, High palate, Clinodactyly of the 5th finger, C... OMIM:300373
Developmental And Epileptic Encephalopathy 63
Conductive hearing impairment, Bulbous nose, Overlapping toe, Cleft palate OMIM:617976
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Inguinal hernia, Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Metaphyseal wide... OMIM:614376
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Micromelia, Hydrops fetalis, Renal cyst, High palate, Syndactyly, Hypospadias, Renal hypoplasia, ... OMIM:614091
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent thumb, Short thumb, Abnormal renal morphology, Hypoplasia of the r... OMIM:609053
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Cutaneous finger... OMIM:235510
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectal atresia, Hypoplasia of the radius, Perineal fistula, Ectrodactyly, Rectovag... ORPHA:3016
Marden-Walker Syndrome
Inguinal hernia, Hypospadias, Arachnodactyly, Anteverted nares, Micrognathia, High, narrow palate... OMIM:248700
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Symphala... ORPHA:2741
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Sandal gap, Short metatarsal, Abnormal earlobe morphology, Clef... ORPHA:217017
Opitz-Kaveggia Syndrome
Single transverse palmar crease, Micrognathia, Prominent nose, Anteriorly placed anus, Prominent ... OMIM:305450
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... ORPHA:3138
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Posteriorly rotated ears, Depressed nasal bridge, Postaxial polydactyly, Tapered... OMIM:300968
Penile Agenesis
Cloacal abnormality, Fetal pyelectasis, Bilateral renal hypoplasia, Anorectal anomaly, Absent pen... ORPHA:49
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Cutaneous finger syndactyly, Choanal stenosis, C... OMIM:219000
Isolated Atp Synthase Deficiency
Sensorineural hearing impairment, Optic atrophy, Renal hypoplasia, 3-Methylglutaconic aciduria, H... ORPHA:254913
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Pontocerebellar Hypoplasia, Type 11
Bulbous nose, Macrotia, Talipes equinovarus, Anal atresia OMIM:617695
Hemifacial Microsomia With Radial Defects
Cleft palate, Microtia, Atresia of the external auditory canal, Triphalangeal thumb, Conductive h... OMIM:141400
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon, Renal agenesis, Sensorineural hearing impairment, Postaxial hand polydacty... ORPHA:2155
Meier-Gorlin Syndrome 7
Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu... OMIM:617063
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cuta... OMIM:270400
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Omphalocele, Hypoplasia of penis, Encephalocele, Hypospadias, ... ORPHA:2166
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
Mckusick-Kaufman Syndrome
Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Edema, Aganglion... OMIM:236700
Mckusick-Kaufman Syndrome
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa... ORPHA:2473
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla... ORPHA:2673
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormality of the wrist,... ORPHA:2878
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal ... ORPHA:2973
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Genu valgum, Anal atresia ORPHA:1381
Lumbar Syndrome
Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Spina bifida, Bifid uterus, Cryp... ORPHA:83628
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly OMIM:618804
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Anteverted nares, Tapered finger, Sensorineural hearing impairment, Small ... OMIM:618672
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... ORPHA:90650
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Prominent nasal bridge, Unilateral renal agenesis, Ectopic kidney, Long nose, Cr... OMIM:616541
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Single transverse palmar crease, Proximal placement of thumb... OMIM:229850
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Inguinal hernia, Abnormality of the kidney, Uplifted earlobe, Tapered finger, Precoc... ORPHA:261652
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Choreoathetosis, Conductive hearing impairment, Anteverted nares, Dystonia OMIM:618497
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Sirenomelia
Absence of the sacrum, Spina bifida, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenom... ORPHA:3169
Tenosynovial Giant Cell Tumor
Abnormality of the knee, Abnormality of the tympanic membrane, Abnormality of the auditory canal,... ORPHA:66627
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... OMIM:223800
Dihydropyrimidinase Deficiency
Uraciluria, Short phalanx of finger, Talipes equinovarus, Anal atresia OMIM:222748
Hogue-Janssen Syndrome 2
Prominent metopic ridge, Broad hallux, Anteverted nares, Postaxial polydactyly, Unilateral renal ... OMIM:616362
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistul... OMIM:617466
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Protruding ear, Recurrent aspiration pneumonia, Intention tremor, Psoriasiform dermatitis, Anteve... ORPHA:221139
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Microphallus, Clinodactyly... OMIM:618454
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... OMIM:613091
Shashi-Pena Syndrome
Short metacarpal, Posteriorly rotated ears, Unilateral renal agenesis, Broad nasal tip, Cupped ea... OMIM:617190
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... OMIM:270100
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Toe syndactyly, Renal agenesis, Clitoral hypertrophy, Ectopic kidney, Bulbou... ORPHA:140952
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca... OMIM:618395
Neurooculorenal Syndrome
Hypoplasia of the bladder, Mixed hearing impairment, Intestinal malrotation, Unilateral renal age... OMIM:620305
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly, Nephronophthisis, Ambiguous genitalia, Micropenis OMIM:614464
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Sensorineural hearing impairment, Submucous cleft hard palate, Renal hypop... OMIM:617660
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Bladder Exstrophy And Epispadias Complex
Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly... OMIM:600057
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Knee flexion contracture, Microphallus, Pelvic kidney, Low-set, posteriorl... ORPHA:468631
Fanconi Anemia
Micrognathia, Abnormal femur morphology, High palate, Abnormality of the uterus, Triphalangeal th... ORPHA:84
Odontochondrodysplasia 1
Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Cone-shaped e... OMIM:184260
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Narrow palate, Multiple... ORPHA:207
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of fin... OMIM:309620
Brain Malformations With Or Without Urinary Tract Defects
Inguinal hernia, Anteverted nares, Renal hypoplasia, Low-set ears, Metopic synostosis, Vesicouret... OMIM:613735
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Conductive hearing impairment, Micropenis, Anteverted nares, Cleft soft palate, Dep... OMIM:616331
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Cleft palate, Bilateral conductive hearing impairment, Abnormality of the ankl... ORPHA:2010
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillb... OMIM:614922
Coffin-Siris Syndrome 6
Wormian bones, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Broad nasal tip, H... OMIM:617808
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Triphalangeal thumb, Clinodactyly of the 5th finger, Conductive hearin... ORPHA:794
2Q37 Microdeletion Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Brachydactyly,... ORPHA:1001
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Posteriorly rotated ears, Bilateral singl... ORPHA:264200
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... ORPHA:246
Auriculocondylar Syndrome 3
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... OMIM:615706
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, M... ORPHA:3027
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Septate... ORPHA:2237
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Blepharocheilodontic Syndrome 1
Choanal atresia, Cutaneous syndactyly, Neural tube defect, Clinodactyly, Anal atresia OMIM:119580
Bartsocas-Papas Syndrome 1
Ectopic kidney, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Hypoplastic il... OMIM:263650
Bardet-Biedl Syndrome 3
External genital hypoplasia, Renal hypoplasia, Postaxial polydactyly, Brachydactyly OMIM:600151
7Q11.23 Microduplication Syndrome
Single transverse palmar crease, Micrognathia, Abnormal optic disc morphology, High palate, Chron... ORPHA:96121
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, High palate, Camptoda... ORPHA:261337
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Lateral Meningocele Syndrome
Prominent metopic ridge, Wormian bones, Posteriorly rotated ears, Inguinal hernia, Abnormality of... ORPHA:2789
Chopra-Amiel-Gordon Syndrome
Cleft palate, Thick nasal alae, Flared nostrils, Unilateral renal agenesis OMIM:619504
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Abnormal metacarpal mor... ORPHA:93262
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Knee flexion contracture, Prominent crus of helix, Cryptorchidism, Wide nasal b... OMIM:619194
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... OMIM:129900
Duplication Of Urethra
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Pneumonia ORPHA:85179
Solitary Rectal Ulcer Syndrome
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer ORPHA:209964
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Optic atrophy, Renal hypoplasia, Choreoathet... OMIM:617595
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Optic nerve hypopl... OMIM:243605
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Posteriorly rotated ears, Rocker bottom foot, Depressed nasal bridge, Sensorineural he... OMIM:612582
Phaver Syndrome
Broad hallux phalanx, Posteriorly rotated ears, Pterygium, Camptodactyly of finger, Depressed nas... ORPHA:2876
Craniometaphyseal Dysplasia
Depressed nasal bridge, Facial palsy, Sensorineural hearing impairment, Wide nasal bridge, Conduc... ORPHA:1522
Trisomy 18
Pointed helix, Holoprosencephaly, Bilateral single transverse palmar creases, Low-set, posteriorl... ORPHA:3380
Trichorhinophalangeal Syndrome Type 2
Low-set, posteriorly rotated ears, Joint dislocation, Recurrent urinary tract infections, Brachyd... ORPHA:502
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Kapur-Toriello Syndrome
Single transverse palmar crease, Camptodactyly of finger, Intestinal malrotation, Short thumb, Cr... OMIM:244300
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, N... ORPHA:3019
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
12Q14 Microdeletion Syndrome
Wide nose, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Tremor, Ectopic kidney, ... ORPHA:94063
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro... ORPHA:2633
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... OMIM:251450
Cardiospondylocarpofacial Syndrome
High, narrow palate, Short palm, Conductive hearing impairment, Failure of eruption of permanent ... ORPHA:3238
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... ORPHA:989
Anus, Imperforate
Anal atresia OMIM:207500
Leopard Syndrome 1
Mandibular prognathia, Scapular winging, Posteriorly rotated ears, Hypospadias, Unilateral renal ... OMIM:151100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Preaxial polydactyly, Narrow greater sciatic notch, Absent nasal bridge, Neonatal d... OMIM:617925
Acrocallosal Syndrome
Mandibular prognathia, High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Micr... OMIM:200990
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Clinodactyly of the 5th finger, Atresia of t... OMIM:221320
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Cryptorchi... OMIM:602471
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Co... ORPHA:87
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Arachnodactyly, Camptoda... ORPHA:2994
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tremor, Hypertrophy of the urinary bladder, Large fleshy ears, High palate, Prominent superior cr... ORPHA:280633
Congenital Disorder Of Glycosylation, Type Iig
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Conductive hearing impa... OMIM:611209
Radial Aplasia, X-Linked
Absent radius, Hydrocephalus, Penile hypospadias, Anal atresia OMIM:312190
Cach Syndrome
Optic atrophy, Renal hypoplasia, Gonadal dysgenesis, Optic neuritis, Pancreatitis, Oligohydramnios ORPHA:135
Waardenburg Syndrome
Intestinal obstruction, Aplasia/Hypoplasia of the colon, Aganglionic megacolon, Prominent nasal b... ORPHA:3440
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Sensorineural hearing impairment, Cleft palate, Fused cervical vertebr... OMIM:214300
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,... OMIM:213980
Smith-Mccort Dysplasia 2
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ... OMIM:615222
Larsen-Like Syndrome
Joint dislocation, Dental malocclusion, Cleft palate, Recurrent otitis media, Radial deviation of... OMIM:608545
Tetraamelia Syndrome 1
Renal agenesis, Hypoplasia of the fallopian tube, Choanal atresia, Micrognathia, Absent external ... OMIM:273395
Johnson Neuroectodermal Syndrome
Choanal atresia, Facial palsy, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, C... ORPHA:2316
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Single transverse palmar cre... OMIM:617425
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Focal Facial Dermal Dysplasia Type Iii
Abnormality of the upper urinary tract, Abnormal sacroiliac joint morphology, Depressed nasal rid... ORPHA:1807
Chondrodysplasia, Blomstrand Type
Micromelia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal bones, Advanc... OMIM:215045
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, Prominent nasal bridge, Micrognathia, Lacticaciduria, Renal hypoplasia, Amino... OMIM:604273
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Posteriorly rotated ears, Aganglionic megacolon, Tapered finger, Broad nas... OMIM:239300
Renal And Mullerian Duct Hypoplasia
Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele... OMIM:266810
Acro-Renal-Ocular Syndrome
Triphalangeal thumb, Vesicoureteral reflux, Conductive hearing impairment, Vertebral fusion, Hypo... ORPHA:959
Thakker-Donnai Syndrome
Communicating hydrocephalus, Posteriorly rotated ears, Anteverted nares, Bulbous nose, Tracheoeso... ORPHA:1780
49,Xyyyy Syndrome
Abnormality of the epiphyses of the elbow, Large carpal bones, Finger clinodactyly, Radioulnar sy... ORPHA:99330
Feingold Syndrome Type 2
Ventricular septal defect, Jejunal atresia ORPHA:391646
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Choanal ... ORPHA:92050
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Choana... OMIM:263750
Acrocardiofacial Syndrome
Joint dislocation, Finger syndactyly, Hypoplasia of penis, Hallux valgus, Hypospadias, Toe syndac... ORPHA:2008
Opitz Gbbb Syndrome
Bifid scrotum, Micrognathia, High palate, Vesicoureteral reflux, Recurrent aspiration pneumonia, ... ORPHA:2745
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Short middle phalanx of finger, Anal atresia, Brachydactyly ORPHA:1436
Pallister-Hall Syndrome
Small scrotum, Ectopic kidney, Depressed nasal ridge, Holoprosencephaly, Micropenis, Bifid uvula,... ORPHA:672
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, E... ORPHA:2869
Kniest Dysplasia
Hip contracture, Inguinal hernia, Enlarged joints, Rhizomelia, Depressed nasal bridge, Dumbbell-s... OMIM:156550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Congenital Myopathy 17
Mandibular prognathia, Overlapping toe, Polyhydramnios, Tapered finger, Clinodactyly, Dental malo... OMIM:618975
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Hamart... OMIM:277170
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Hearing impairment, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplas... ORPHA:2578
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Limb hy... OMIM:620070
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Wormian bones, Posteriorly rotated ears, Inguinal hernia, A... OMIM:130720
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Ankle swelling, Wrist swelling, Osteolysis involving tarsal bones, M... OMIM:166300
Dyrk1A-Related Intellectual Disability Syndrome
Renal cyst, Protruding ear, Clinodactyly of the 5th finger, Micropenis, Pelvic kidney, Hypospadia... ORPHA:464306
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ... OMIM:180870
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Micrognathia, Abnormal optic disc morphology, Short palm, Clinodactyly of ... ORPHA:508498
Cdags Syndrome
Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Sensorineural hearing impairment, ... OMIM:603116
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Vesicoureteral reflux, Conductive hearing impairment, Abnormal salivary... ORPHA:2363
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Clinodactyly o... OMIM:181270
Ring Chromosome 13 Syndrome
Bifid scrotum, Aplasia/Hypoplasia of the thumb, Posteriorly rotated ears, Hypospadias, Partial ab... ORPHA:96176
Intellectual Developmental Disorder, Autosomal Dominant 2
Prominent fingertip pads, Cholesteatoma OMIM:614113
Bnar Syndrome
Anal stenosis, Abnormal fifth toe morphology, Renal agenesis, Anteriorly placed anus, Bifid nose ORPHA:217266
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Depressed nasal bridge, Abnormal pinna morphology, Anteverted nares, Postaxial hand polydactyly, ... ORPHA:75389
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Posteriorly rotated ears, Sandal gap, Anteverted nares, Short toe, Anterior ope... OMIM:617877
Familial Expansile Osteolysis
Conductive hearing impairment, Hydroxyprolinuria, Bowing of the long bones OMIM:174810
Ehlers-Danlos Syndrome, Classic-Like
Unilateral renal agenesis, Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus, Joint s... OMIM:606408
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon... OMIM:620269
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ... ORPHA:319675
Opitz Gbbb Syndrome
Inguinal hernia, Abnormal nasopharynx morphology, Posteriorly rotated ears, Hypospadias, Antevert... OMIM:300000
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Orofaciodigital Syndrome Type 6
Micrognathia, Tremor, Bilateral cryptorchidism, Preaxial polydactyly, Finger clinodactyly, Lobula... ORPHA:2754
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Acne, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of t... OMIM:158330
Adams-Oliver Syndrome 6
Syndactyly, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Brachydactyly OMIM:616589
Genitopatellar Syndrome
Congenital hip dislocation, Small scrotum, Polyhydramnios, Micrognathia, Hypoplastic ischia, Prom... OMIM:606170
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... ORPHA:3145
Smith-Magenis Syndrome
Mandibular prognathia, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Delayed eruption... ORPHA:819
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Anosmia,... OMIM:308700
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of renal corticomedu... OMIM:120330
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut... ORPHA:857
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Hip dislocation, Protruding ear, Talipes equinovarus, Low-set ears, Wo... OMIM:616603
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft palate, Neonata... OMIM:615524
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Omphalocele, Ventral shortening of foreskin, Cryptorchidism, Esophageal atresia, C... ORPHA:95706
Treacher Collins Syndrome 3
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... OMIM:248390
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... ORPHA:70475
Steel Syndrome
Carpal synostosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Limited elbow exte... OMIM:615155
Meckel Syndrome 14
Single ventricle OMIM:619879
Andersen-Tawil Syndrome
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teet... ORPHA:37553
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Cleft Velum
Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insuf... ORPHA:99772
Isolated Cleft Lip
Polyhydramnios, Velopharyngeal insufficiency, Abnormal Eustachian tube morphology, Talipes equino... ORPHA:199302
Agnathia-Otocephaly Complex
Wide nose, Polyhydramnios, Micrognathia, Aglossia, Cleft palate, Holoprosencephaly, Low-set ears,... OMIM:202650
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Abnormality of the uterus,... ORPHA:2470
22Q11.2 Deletion Syndrome
Polyhydramnios, Micrognathia, Anorectal anomaly, Abnormality of the uterus, Vesicoureteral reflux... ORPHA:567
Dworschak-Punetha Neurodevelopmental Syndrome
Depressed nasal bridge, Cupped ear, Unilateral renal hypoplasia, Large earlobe, Vesicoureteral re... OMIM:619955
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Flexion contracture of finger, Hypospadias, Prominent nasal bridge, Unilateral... ORPHA:464311
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Oculopharyngodistal Myopathy 3
Tremor, Conductive hearing impairment, Sensorineural hearing impairment OMIM:619473
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Non-Functioning Paraganglioma
Pulsatile tinnitus, Elevated urinary norepinephrine level, Tremor, Paroxysmal vertigo, Elevated u... ORPHA:94080
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Unilateral cryptorchidism, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory... OMIM:300946
Kallmann Syndrome With Spastic Paraplegia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Anosmia, High palate, M... OMIM:308750
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t... OMIM:601356
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Micrognathia, Ambiguous genitalia, female, ... OMIM:249000
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta... ORPHA:973
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Malabsorption, Iridocyclitis, ... OMIM:240300
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
Radio-Tartaglia Syndrome
Brachydactyly, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, Tr... OMIM:619312
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Conductive hearing... OMIM:616726
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... OMIM:140000
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Finger syndactyly, Toe clinodactyly, Hypospadias, Sandal gap, Craniosynostos... ORPHA:254346
Crouzon Syndrome
Mandibular prognathia, Sagittal craniosynostosis, Keratitis, Hypoplasia of the maxilla, Hydroceph... OMIM:123500
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the wrist, Abnormality of the ... ORPHA:2496
Joubert Syndrome 22
Postaxial foot polydactyly, Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly OMIM:615665
Diphallia
Bifid scrotum, Ureteral duplication, Epispadias, Ectopic scrotum, Duplicated colon, Bladder exstr... ORPHA:227
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormal pinna morphology, Micrognathia, Optic atrophy, Prominent fingertip pads, Retrognathia, A... ORPHA:480898
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Prominent nose, Tremor, Choanal stenosis, Con... OMIM:601808
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral ... OMIM:617914
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear,... OMIM:147920
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Bifid scrotum, Hypospadias, P... ORPHA:2211
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... ORPHA:2491
Dyggve-Melchior-Clausen Disease
Metaphyseal dysplasia, Epiphyseal dysplasia, Abnormal pelvis bone morphology, Rhizomelia, Glenoid... ORPHA:239
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Micrognathia, Optic atrophy, Dystonia, Prominent fingertip pads, Retrognathia, Anal atresia OMIM:616875
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalize... ORPHA:66634
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Madelung deformity, Short femora... OMIM:249700
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Anteverted nares, Single transverse palmar... ORPHA:2332
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete... ORPHA:2911
Trichorhinophalangeal Syndrome, Type Iii
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... OMIM:190351
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Hypospadias, Tarsal synostosis, Aplastic clavicle, Micrognathia, Eczema, Abnormal dental enamel m... ORPHA:85199
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Cryptorchidism, Metopic synostosis, Dystonia, Neonatal death, Hearing ... OMIM:620024
Larsen Syndrome
Finger syndactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bones, Abnormal e... ORPHA:503
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Preaxial hand polyd... OMIM:610536
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Abnormality of the ear, Clinodactyly of the 5th finger, Cond... ORPHA:2710
Cleft Palate, Deafness, And Oligodontia
Sandal gap, Cleft soft palate, Short hallux, No permanent dentition, Bilateral conductive hearing... OMIM:216300
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Hypospadias, Overlapping toe, Unilateral rena... ORPHA:487796
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Mixed hearing impairment, Enlarged joints, Anteverted nares, Depressed nasa... OMIM:215150
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Unilater... ORPHA:1064
Fanconi Anemia, Complementation Group W
Absent thumb, Hypoplasia of the radius, Renal hypoplasia, Abnormal radial ray morphology, Duodena... OMIM:617784
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Juberg-Hayward Syndrome
Wide nose, Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger mo... ORPHA:2319
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... OMIM:602875
Fanconi Anemia, Complementation Group R
Radial dysplasia, Absent thumb, Hydrocephalus, Pelvic kidney, Anal atresia OMIM:617244
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Renal hypoplasia, Vesicoureteral reflux, Megadu... OMIM:611376
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Posteriorly rotated ears, Facial palsy, Micrognathia, Large iliac wing... ORPHA:2780
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Cryptorchidism, Sensorin... ORPHA:1131
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Wrist swelling, Slender long bone, Metacarpal osteolysis, Abnormal epiph... ORPHA:2774
Rhyns Syndrome
Renal insufficiency, Radial bowing, Sensorineural hearing impairment, Chronic kidney disease, Sho... OMIM:602152
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,... OMIM:614613
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... ORPHA:100084
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Rhizomelia, Iliac crest serration, Widened gr... OMIM:250220
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Acalvaria
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Hypoplasia of the maxilla, 2-3 toe syndactyly, Cleft palate, Wide nasal bridge, Palm... OMIM:106260
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Abnormality o... ORPHA:3265
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Single transverse palmar crease, Ovotestis, Hydrocephalus, Cle... OMIM:309801
Ulnar-Mammary Syndrome
Deformed radius, Small scrotum, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Apl... OMIM:181450
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Premature thelarche, Protruding ear, Micropenis, Hypospadias, Cleft soft palate, Tapered finger, ... ORPHA:268261
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Inguinal hernia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Cr... OMIM:601499
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Symphalangism affecting the ... ORPHA:2990
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Posteriorly rotated ears, Anteverted nares, Small hand, Wide nasal ... OMIM:619980
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Craniosynostosis, Micrognathia, Pyloric stenosis, Sensorineural hea... ORPHA:261197
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis OMIM:615083
Brachycephaly, Trichomegaly, And Developmental Delay
Prominent fingertip pads, Depressed nasal bridge, Single transverse palmar crease, Supernumerary ... OMIM:617412
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Fibular hypoplasia, Flat acetabular roof, Fl... OMIM:600002
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Hypospadias, Sandal gap, Intestinal malrotation, Long nose, Cryptorchidism, Cario... OMIM:617602
Ulbright-Hodes Syndrome
Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnormal exte... ORPHA:3404
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Charge Syndrome
Abnormal palmar dermatoglyphics, Polyhydramnios, Micrognathia, External genital hypoplasia, Hand ... OMIM:214800
Cockayne Syndrome Type 3
Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesi... ORPHA:90324
Thoraco-Abdominal Enteric Duplication
Meningocele, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, ... OMIM:136140
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor... OMIM:135100
Sotos Syndrome
Mandibular prognathia, High, narrow palate, High palate, Otitis media, Conductive hearing impairm... OMIM:117550
Peters Plus Syndrome
Ureteral duplication, Micromelia, Micrognathia, Polyhydramnios, Clitoral hypoplasia, Clinodactyly... ORPHA:709
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Depressed nasal ridge, Limb undergrowth, Conductive hearing impairme... ORPHA:1861
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Metaphyseal dysplasia, Mixed hearing impairment, Abnormal nasopharynx morp... OMIM:218400
Currarino Syndrome
Absence of the sacrum, Recurrent urinary tract infections, Neurogenic bladder, Anal stenosis, Uri... OMIM:176450
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Tetrasomy 12P
Delayed eruption of teeth, Anteverted nares, Abnormal soft palate morphology, Short nose, Anal at... ORPHA:884
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Abnormal pinna morphology, Renal... ORPHA:1297
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Neop... ORPHA:157794
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Inguinal hernia, Broad hallux, Anteverted nares, Postaxial polydactyly, ... ORPHA:457284
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Sinusitis, Sandal gap, Anal stenosis, Choanal atresia, Microg... OMIM:251260
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis,... ORPHA:3109
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Fanconi Anemia, Complementation Group D1
Short thumb, Anal atresia OMIM:605724
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Hydranencephaly, Spina bifida, Micrognathia, Myelomeningocele, Meni... ORPHA:1393
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Otofaciocervical Syndrome 1
Scapular winging, Mixed hearing impairment, Down-sloping shoulders, Hypoplasia of the cochlea, Cu... OMIM:166780
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Renal duplication, Choanal atresia, Ectopic kidney, Micrognathia, Cleft... OMIM:613309
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ... OMIM:269250
Trisomy 20P
Micrognathia, Protruding ear, Low-set, posteriorly rotated ears, Finger syndactyly, Hypospadias, ... ORPHA:261318
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Single transverse palmar crea... OMIM:615777
Renpenning Syndrome 1
Mandibular prognathia, Hypospadias, Phimosis, Micrognathia, Bulbous nose, Cupped ear, Low hanging... OMIM:309500
Anauxetic Dysplasia 1
Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra... OMIM:607095
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Wide nose, Depressed nasal bridge, Bulbous nose, Flared metaphysis, Advanced ossification of carp... OMIM:610442
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... ORPHA:561
Coffin-Siris Syndrome 1
Single transverse palmar crease, Ectopic kidney, Prominent interphalangeal joints, High palate, C... OMIM:135900
Peters-Plus Syndrome
Ureteral duplication, Hypoplasia of the vagina, Single transverse palmar crease, Limited elbow mo... OMIM:261540
Vater/Vacterl Association
Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, P... OMIM:192350
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Single transverse palmar crease, Renal hypoplasia, High palate, Oligohydramnios OMIM:619053
Rauch-Steindl Syndrome
Attached earlobe, Depressed nasal bridge, Micrognathia, Prominent crus of helix, Bilateral renal ... OMIM:619695
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Meningoencephaloce... OMIM:236670
Renal Hypoplasia, Bilateral
Proteinuria, Edema, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cys... ORPHA:97362
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Ventricular septa... OMIM:243150
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossification of carpa... OMIM:620099
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Micrognathia, Hydrops fetalis, Renal cyst, Short palm, Depressed... ORPHA:93271
Degcags Syndrome
Polyhydramnios, Micrognathia, Prominent nose, Bilateral renal hypoplasia, High palate, Syndactyly... OMIM:619488
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Sensorineura... OMIM:108300
Imagawa-Matsumoto Syndrome
Mandibular prognathia, Wide nasal ridge, Cryptorchidism, Anteriorly placed anus, Large hands, Cam... OMIM:618786
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly OMIM:614684
Nemaline Myopathy 9
Ventricular septal defect, High palate, Cleft palate OMIM:615731
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Coxa valga, Advanced ossification of carpal bones, Flattened epiphysis, Genu val... OMIM:618363
Frontorhiny
Low-set, posteriorly rotated ears, Encephalocele, Camptodactyly of finger, Hypoplasia of the maxi... ORPHA:391474
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short metacarpal, Camptodactyly of finger, Tapered finger, Flat capital femoral epiphysis, Thenar... OMIM:612350
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Hydrops fetalis, Knee flexion contracture, High palate, Intercrural pterygium, Cond... OMIM:265000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Septate vagina, Sensorineural hearing impairment, Chronic kidney disease, Thickened ... OMIM:146255
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia ORPHA:63260
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Choanal stenosis, Neonatal death, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydr... OMIM:308205
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Conductive hearing impairment, Dis... OMIM:102500
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Polyhydramnios, Bowing of the legs, Depres... OMIM:100800
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Polyhydramnios, Renal cyst, Narrow greater sciatic notch, Short palm, Post... OMIM:312870
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Bilateral conductiv... OMIM:617802
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... ORPHA:94066
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul... OMIM:610205
8Q24.3 Microdeletion Syndrome
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilatera... ORPHA:508488
Axenfeld-Rieger Syndrome
Anal stenosis, Hypospadias, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge,... ORPHA:782
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal oss... OMIM:210710
Meier-Gorlin Syndrome 6
Microretrognathia, Posteriorly rotated ears, Sandal gap, Anteverted nares, Depressed nasal bridge... OMIM:616835
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Small scrotum, Posteriorly rotated ears, Arachnodacty... ORPHA:2215
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Anteverted nares, Sensorineura... OMIM:220500
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, High p... ORPHA:2751
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Bicornuate uterus, Talipes equinovarus, Low-set ears, Vagi... OMIM:191830
Kinsship Syndrome
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Coxa valga, Bulbous nose, L... OMIM:619297
Campomelic Dysplasia
Anterior tibial bowing, Polyhydramnios, Micrognathia, Delayed epiphyseal ossification, Depressed ... OMIM:114290
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th... ORPHA:424016
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Aural Atresia, Congenital
Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal OMIM:607842
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Intrinsic hand muscle atrophy OMIM:618569
Mucopolysaccharidosis Type 3
Adenoiditis, Otitis media, Aspiration pneumonia, Thickened helices, Conductive hearing impairment... ORPHA:581
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... ORPHA:480536
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Rhinitis, Conductive hearing impairment, Chronic sinusitis, Chronic otitis media OMIM:618063
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Adva... OMIM:224400
Primary Ciliary Dyskinesia
Nasal polyposis, Intestinal malrotation, Hydrocephalus, Clubbing, Bronchiectasis, Nasal congestio... ORPHA:244
Czeizel-Losonci Syndrome
Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit... ORPHA:2437
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Polyhydramnios, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly ... OMIM:117650
Oculodentodigital Dysplasia
Uveitis, High palate, Joint contracture of the 5th finger, Conductive hearing impairment, Antever... OMIM:164200
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Acromesomelic Dysplasia 4
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... OMIM:619636
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment, Abnormal pelvic girdle bone morphology, Mandibular pain, Thickened... OMIM:607634
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Hennekam Syndrome
Ectopic kidney, Lymphedema, Hydrops fetalis, Conductive hearing impairment, Finger syndactyly, De... ORPHA:2136
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Cleft palate, Microtia, St... OMIM:612290
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Absent external genitalia, Uret... OMIM:271520
Distal Deletion 19P
Long toe, Low-set, posteriorly rotated ears, Vaginal hernia, Arachnodactyly, Hypoplasia of the ma... ORPHA:96129
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the... OMIM:602588
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... ORPHA:2438
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Micrognathia, Epispadias, Preaxial polydactyly, Aplasia of the epiglotti... OMIM:615948
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High palate, Cond... OMIM:182212
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Unilateral renal agenesis, Cleft palate, Methylmalonic aciduria, Stomatitis, Glossitis ORPHA:79284
Spondylocarpotarsal Synostosis Syndrome
Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short ... OMIM:272460
Down Syndrome
Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Short middle phalanx of the 5... OMIM:190685
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Wormian bones, Hypogonadotropic hypogonadism, Ambiguous genitalia, Tapered f... OMIM:617159
Kabuki Syndrome
Hypoplasia of penis, Protruding ear, High palate, Conductive hearing impairment, Hypospadias, Pre... ORPHA:2322
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Short metatarsal, Finger clinodactyly, High palate, Conductive hearin... OMIM:617137
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Protru... ORPHA:2462
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Zttk Syndrome
Depressed nasal bridge, Polyuria, Unilateral renal agenesis, Craniosynostosis, Hypoplasia of the ... OMIM:617140
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro... ORPHA:235
Craniometaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Mixed hearing impairment, Facial palsy, Metaphyseal widening, Flared metap... OMIM:123000
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro... OMIM:259600
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Paranasal sinus hypoplasia, Abnormal pinna morphology, Hypospadias, Absent tragu... OMIM:603457
Congenital Disorder Of Glycosylation, Type Iit
Posteriorly rotated ears, Urinary incontinence, Sandal gap, Prominent nasal bridge, Small hand, S... OMIM:618885
Floating-Harbor Syndrome
Enlarged joints, Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, Humeral pseu... ORPHA:2044
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc... OMIM:304120
3Mc Syndrome 1
Omphalocele, Single interphalangeal crease of fifth finger, Diastasis recti, Abnormality of the a... OMIM:257920
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Wide nose, Nonimmune hydrops fetal... OMIM:617667
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Delayed closure of the anterior fontanelle, Micrognathia, Postaxial polydac... OMIM:618460
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Proteinuria, Elevated urinary norepinephrine level, Tremor, Paroxysmal vertig... ORPHA:276621
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Flared metaphysis, Hypoplastic pubic bone, Short long bone, Small epiphyses, Delayed ossification... ORPHA:93346
Cerebrooculonasal Syndrome
Encephalocele, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Postaxial polydactyl... OMIM:605627
Schizophrenia 1
Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Protruding ear, Short pr... OMIM:181510
Cockayne Syndrome
Urinary incontinence, Intention tremor, Cryptorchidism, Renal hypoplasia, Nephrotic syndrome, Hig... ORPHA:191
Catel-Manzke Syndrome
Atrial septal defect, Glossoptosis, Ventricular septal defect, Cleft palate ORPHA:1388
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Axial Spondylometaphyseal Dysplasia
Iliac crest serration, Hypoplastic iliac wing, Proximal femoral metaphyseal irregularity, Upper l... ORPHA:168549
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... ORPHA:210122
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Micrognathia, Clinodactyly of the 5th finger, Chronic otitis media, Hypoplas... ORPHA:1507
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,... OMIM:608257
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Mixed hearing impairment, Short femur, Depressed nasal bridge, Polyhyd... OMIM:300990
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High p... ORPHA:861
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Tapered fi... OMIM:615560
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Duplicated collecting system, Microretrognathia, Hip contracture, Brachydactyly, Bilateral single... ORPHA:488642
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux OMIM:619793
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... OMIM:604292
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... ORPHA:49041
Treacher Collins Syndrome 2
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, An... OMIM:613717
Nijmegen Breakage Syndrome
Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Hearing abnormalit... ORPHA:647
Caudal Duplication
Myelomeningocele, Intestinal duplication, Spina bifida ORPHA:1756
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... ORPHA:763
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Recurrent urinary tract infections, Brachydactyly, Eczema, Polyhydramnios, Ante... OMIM:617157
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Abnormal pinna morphology, Rocker bottom foot, Depressed nasal bridge, Choanal at... OMIM:207410
15Q Overgrowth Syndrome
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnor... ORPHA:314585
Waardenburg Syndrome, Type 3
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... OMIM:148820
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Micrognathia, High palate, Vesicoureteral reflux, Micropenis, Hypospadias, Antever... OMIM:309580
Larsen Syndrome
Vertebral fusion, Short metacarpal, Depressed nasal bridge, Spatulate thumbs, Elbow dislocation, ... OMIM:150250
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Choanal atresia, Palmo... ORPHA:1555
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Microphthalmia, Syndromic 6
Small scrotum, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, H... OMIM:607932
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... OMIM:607326
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Hennekam-Beemer Syndrome
Wide nose, Camptodactyly of finger, Pneumonia, Micrognathia, Long nose, Optic atrophy, Wide nasal... ORPHA:2135
Atelosteogenesis Type Ii
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... ORPHA:56304
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Micrognathia, Neonatal death, Hypospadias, Nonimmune hydrops fetalis, Esophageal ... OMIM:265380
Moebius Syndrome
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... OMIM:157900
Alg12-Cdg
Muscular ventricular septal defect, Patent ductus arteriosus, Biventricular hypertrophy, Camptoda... ORPHA:79324
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Congenital hip dislocation, Prominent nose, High palate, Low-set, posteriorly rotated ears, Depre... ORPHA:480880
Meckel Syndrome, Type 2
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate OMIM:603194
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi... ORPHA:1427
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Abnormal metacarpal morphology, ... ORPHA:2095
Rabin-Pappas Syndrome
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Broad nasal tip, Sensorineural heari... OMIM:620155
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... ORPHA:447877
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone OMIM:606943
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Marshall-Smith Syndrome
Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glos... OMIM:602535
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... OMIM:619503
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent frontal sinuses, Anosmia, Bronchi... OMIM:244400
Digeorge Syndrome
Micrognathia, High, narrow palate, High palate, Bifid uvula, Acne, Femoral hernia, Ovarian cyst, ... OMIM:188400
Okamoto Syndrome
Urinary incontinence, Exaggerated median tongue furrow, Prominent metopic ridge, Anteverted nares... ORPHA:2729
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo... ORPHA:3121
Beta-Ureidopropionase Deficiency
Bifid scrotum, Bladder exstrophy, Anal atresia, Dystonia OMIM:613161
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
Microphthalmia, Syndromic 1
Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, High palate, Prominent fin... OMIM:309800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... OMIM:271665
Williams Syndrome
Hypoplasia of penis, Micrognathia, Tremor, Periorbital edema, Rectal prolapse, Abnormal tubuloint... ORPHA:904
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Megarectum OMIM:301056
Alopecia Antibody Deficiency
Conductive hearing impairment, Abnormality of dental color ORPHA:1006
Pgm3-Cdg
Lactose intolerance, Mild neurosensory hearing impairment, Membranoproliferative glomerulonephrit... ORPHA:443811
Congenital Tracheal Stenosis
Abnormality of the kidney, Fetal ascites, Polyhydramnios, Abnormal stomach morphology, Abnormalit... ORPHA:141127
Noonan Syndrome 12
11 pairs of ribs, Polyhydramnios, Proximal placement of thumb, Atopic dermatitis, Anteriorly plac... OMIM:618624
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Angulated humerus, Bowing of the long bones, Wormian bones, Rhizomelia, Short ... OMIM:616229
Phakomatosis Pigmentokeratotica
Spina bifida, Lymphedema, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, ... ORPHA:2874
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Anteriorly placed anus, High palate, Choanal stenosis, Bifid uvula, Hypospadias, A... OMIM:123790
Distal Deletion 12Q
Single transverse palmar crease, Ectopic kidney, Micrognathia, High, narrow palate, Aplasia/Hypop... ORPHA:96149
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, High palate, Synostosis of... ORPHA:221120
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
Monosomy 18Q
Mandibular prognathia, Arachnodactyly, Abnormal palmar dermatoglyphics, Depressed nasal bridge, T... ORPHA:1600
Recombinant 8 Syndrome
Small scrotum, Bilateral single transverse palmar creases, Abnormality of the kidney, Camptodacty... ORPHA:96167
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Ventricular septal defect, Abnormal tricuspid valve morphology, Intestinal atresia ORPHA:3405
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Aganglionic megacolon, Broad nasal tip, Sensorineural hearing impairment, Wide nas... OMIM:614207
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Prominent nose, High, narrow palate, Prominent fingertip pads, Thickened h... OMIM:619950
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Acne, Cleft palate, Protruding ear, Hypoplasia of the uterus, Cubitus valgus, Abn... ORPHA:247768
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Single transverse palmar crease, Polyhydramnios, Micrognathia, Choanal stenosis, ... OMIM:620186
Diamond-Blackfan Anemia 1
11 pairs of ribs, Micrognathia, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication ... OMIM:105650
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Craniosynostosis, Wide nasal bridge, Cleft palate, Ectopic anus, High... ORPHA:251038
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... ORPHA:710
Elsahy-Waters Syndrome
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Anteri... OMIM:211380
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, High palate, Choanal stenosis, N... OMIM:259775
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Recurrent urinary tract infections, Overlapping toe, Palpebral edema, Seve... ORPHA:99843
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Depressed nasal bridge, Craniosynostosis, Tapered finger, Micrognathia, Cryptor... OMIM:620005
15q26 overgrowth syndrome
Mandibular prognathia, Micrognathia, Prominent nose, Abnormal finger morphology, High palate, Ves... DECIPHER:81
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, High palate, Abnormal... ORPHA:199
Alagille Syndrome 1
Duplicated collecting system, Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Multiple... OMIM:118450
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Proteinuria, Elevated urinary norepinephrine level, Tremor, Paroxysmal vertig... ORPHA:29072
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Choanal atresia, Prominent nasal bridge, Bilateral cryptorchidism, Sens... OMIM:300472
Giant Cell Arteritis
Renal insufficiency, Pericarditis, Epistaxis, Recurrent pharyngitis, Vertigo, Optic atrophy, Hema... ORPHA:397
Pallister-Killian Syndrome
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Polyhyd... OMIM:601803
Holoprosencephaly 1
Single ventricle OMIM:236100
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Sensorineural hearing impair... OMIM:615816
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Anteriorly placed anus, Choanal... OMIM:201750
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:615297
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia... ORPHA:306542
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Anteriorly placed anus, Clitoral hypoplasia, Vesicoureteral reflux, Micropenis, Sho... OMIM:616894
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short meta... OMIM:305600
Autosomal Dominant Cutis Laxa
Inguinal hernia, Genu recurvatum, Unilateral renal agenesis, Hip dislocation, Bronchiectasis, Pye... ORPHA:90348
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... ORPHA:93317
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen... OMIM:606164
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Hypoplasia of the maxilla, Clinodactyly, High palate, Conductive hearing i... OMIM:614188
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Convex nasal ridge, Optic nerve hypoplasia, Hydrocepha... OMIM:619321
Xp22.3 Microdeletion Syndrome
Ectopic anus, Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Aplasia of the epiglottis, Clinodactyly of the 5th finger, Short tib... OMIM:268305
Qazi-Markouizos Syndrome
Delayed ossification of carpal bones, Tapered finger ORPHA:3010
Anorectal Anomalies
Rectovaginal fistula, Anal atresia OMIM:107100
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Single transverse palmar cr... OMIM:114300
Common Variable Immunodeficiency
Pneumonia, Gastrointestinal stroma tumor, Bronchiectasis, Otitis media, Chronic otitis media, Ana... ORPHA:1572
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Optic atrophy, Renal hypoplasia, ... OMIM:617913
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Mosaic Trisomy 16
Syndactyly, Abnormal ear morphology, Hypospadias, Single transverse palmar crease, Abnormality of... ORPHA:1708
Lathosterolosis
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Myelomeningocele, Wid... OMIM:607330
Robinow Syndrome
Small scrotum, External genital hypoplasia, Micrognathia, Clitoral hypoplasia, Webbed penis, Micr... ORPHA:97360
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormal external genitalia, Micrognathia, Abnormality of the urethr... ORPHA:2842
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... OMIM:151050
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Abnormal pinna morphology, Hypospadias, Proximal placement of thumb, Micrognathia, An... OMIM:217980
Waardenburg Syndrome Type 3
Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Abnormality of ... ORPHA:896
Jacobsen Syndrome
Long hallux, Broad columella, Abnormality of the anus, Low-set, posteriorly rotated ears, Broad h... ORPHA:2308
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Aganglionic megacolon, Prominent nasal bridge, Micrognathia, Bulbous nose,... ORPHA:247262
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... OMIM:609945
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Depressed nasal bridge, Micromelia, Renal hypoplasi... ORPHA:3015
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia OMIM:619083
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Muenke Syndrome
Tarsal synostosis, Short foot, Cone-shaped epiphysis, Short palm, Carpal synostosis, Coronal cran... ORPHA:53271
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... OMIM:600383
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Sandal gap, Macrodactyly, Renal hypoplasia, Spinal dysraphism, Nephroblastoma OMIM:612918
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Conductive hearing impairment, Sensorineural hearing impairment, Lobar ho... OMIM:618500
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Inguinal hernia, Hypospadias, Metatarsus adductus, Sensorineural hearing im... OMIM:611962
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Advanced oss... OMIM:615349
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Posteriorly rotated ears, Single transverse palmar crease, Depressed nasal bridge, Broad nasal ti... ORPHA:466943
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Acrorenal-Mandibular Syndrome
Micrognathia, Aplasia of the bladder, High palate, Hypoplasia of the ulna, Split hand, Split foot... OMIM:200980
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Schinzel-Giedion Syndrome
Micrognathia, Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Choanal stenosis, M... ORPHA:798
Williams-Beuren Syndrome
Rectal prolapse, Nephrocalcinosis, Vesicoureteral reflux, Clinodactyly of the 5th finger, Micrope... OMIM:194050
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, Glossoptosis, High palate, Aspiration pneumonia, Vesicoureteral reflux, Conductive ... ORPHA:444077
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Vesicoureteral reflux, Conduc... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Vesicoureteral reflux, Conduc... ORPHA:352665
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Depressed nasal bridge, Unilateral renal agenesis, Bilateral renal dysplasia, Abs... ORPHA:500150
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Dysphagia OMIM:616276
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Cardiospondylocarpofacial Syndrome
Pseudoepiphyses, Vesicoureteral reflux, Conductive hearing impairment, Anteverted nares, Wide nas... OMIM:157800
Peutz-Jeghers Syndrome
Rectal prolapse, Multiple gastric polyps, Hamartomatous polyposis, Intestinal bleeding, Gastroint... OMIM:175200
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... OMIM:611134
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia OMIM:207950
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Ankle flexion contracture, Narrow nose, Underdeveloped nasal alae, Elbo... OMIM:618175
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, External genital hypoplasia, Unilateral renal agenesis, Probos... ORPHA:141099
Oculoskeletodental Syndrome
Renal agenesis, Cryptorchidism, Elbow flexion contracture, Hypercalciuria, Wide nasal bridge, Mac... OMIM:618440
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth, Cone-shaped ... ORPHA:439822
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... OMIM:194080
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, High palate ORPHA:261120
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:610338
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Arachnodactyly, Aganglionic megacolon, Pr... ORPHA:261222
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Abnormal fallopian tube morphology, Polyhydramnios, Micrognathia, Broad nasal ti... ORPHA:1655
Kyphoscoliotic Ehlers-Danlos Syndrome
Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Abnormality of the hand, Micrognathi... ORPHA:536545
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... ORPHA:1422
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Avascular necrosis of the capital femoral epiphysis, S... ORPHA:77258
Renal Agenesis, Bilateral
Renal agenesis, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abno... ORPHA:1848
Branchioskeletogenital Syndrome
Attached earlobe, Mandibular prognathia, Upper limb peromelia, Hypoplasia of the maxilla, Anterio... ORPHA:1299
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Renal cyst, Clinodact... OMIM:113620
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess OMIM:600145
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... OMIM:143095
Fanconi Anemia, Complementation Group B
Renal agenesis, Hypergonadotropic hypogonadism, Absent thumb, Esophageal atresia, Hydrocephalus, ... OMIM:300514
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Anal stenosis, Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia, 2-3 toe cutaneous sy... OMIM:620029
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa... ORPHA:93111
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Metaphyseal widening, Multiple joint dislocation, High palate, Renal neoplasm, Arac... ORPHA:536467
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal widening, D-2-hydroxyglutaric aciduria, Metaphyseal chondromatosis of radius, Short p... ORPHA:99646
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Conductive hearing... OMIM:280000
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Intestinal malrotation, Abnormal heart morphology, Atrial septal defec... ORPHA:401935
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Single transverse palmar crease, Long nose, High palate... OMIM:619522
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate OMIM:616898
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
1P36 Deletion Syndrome
Hypoplasia of penis, Depressed nasal ridge, Renal cyst, Clinodactyly of the 5th finger, Conductiv... ORPHA:1606
Johanson-Blizzard Syndrome
Single transverse palmar crease, Anteriorly placed anus, Clinodactyly of the 5th finger, Hypoplas... OMIM:243800
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Bilateral con... OMIM:602080
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries, Cl... OMIM:231060
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Micropenis, Hypospadias, Anteverted nares, Depress... OMIM:301040
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac wing, Disloca... OMIM:271640
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
White-Kernohan Syndrome
Hydroureter, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Retrognathia, H... OMIM:619426
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept... ORPHA:1319
Curry-Jones Syndrome
Bicoronal synostosis, Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplic... OMIM:601707
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly OMIM:600430
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Uterus didelphys, Hyd... ORPHA:3411
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Congenital sensorineural hearing impairment, Mixed hearing impairment, Palmoplantar keratoderma, ... ORPHA:2698
Microcephaly 3, Primary, Autosomal Recessive
Mixed hearing impairment, Prominent nose, Sensorineural hearing impairment OMIM:604804
17Q24.2 Microdeletion Syndrome
Otosclerosis, Micrognathia, Vesicoureteral reflux, Upper limb undergrowth, Wide nasal bridge, Mic... ORPHA:529962
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Enterocolitis OMIM:142623
Chromosome 6Q24-Q25 Deletion Syndrome
Sandal gap, Anteverted nares, High, narrow palate, Hydrocephalus, Cupped ear, Small hand, Submuco... OMIM:612863
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ... OMIM:271510
Desmosterolosis
Low-set, posteriorly rotated ears, Renal agenesis, Intestinal malrotation, Micromelia, Renal hypo... ORPHA:35107
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Otitis media, Vesicoureteral reflux, Conductive hearing impairment, Hypospadias, Broad hallux, Cr... ORPHA:353281
Holoprosencephaly 2
Single ventricle OMIM:157170
Fontaine Progeroid Syndrome
Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Hypoplasia of the abdomi... OMIM:612289
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
High-frequency sensorineural hearing impairment, Mixed hearing impairment, Inguinal hernia, Redun... OMIM:614557
Bladder Exstrophy
Umbilical hernia, Intestinal malrotation, Abnormality of the anus ORPHA:93930
Camptobrachydactyly
Syndactyly, Urinary incontinence, Septate vagina, Short toe, Hand polydactyly, Congenital finger ... OMIM:114150
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Depressed nasal ridge, High palate, Thickened helices, Clinodactyly of the 5th fi... OMIM:607872
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Sensorineural hearing impairment, Cleft palate, Hip dysplasia, Abn... ORPHA:90354
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... ORPHA:1071
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplastic cervical vertebra... ORPHA:79345
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Mucolipidosis Type Ii
Hip contracture, Prominent metopic ridge, Inguinal hernia, Depressed nasal bridge, Diastasis rect... ORPHA:576
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Conductive hearing impairment, Vertebral fusion, H... OMIM:194190
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polyhydramnios, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Conductive hearin... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polyhydramnios, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Conductive hearin... ORPHA:353277
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Ventricular septal defect, Holoprosencephaly, Anterior encephalocele OMIM:601357
Mullegama-Klein-Martinez Syndrome
Facial palsy, Hypoplastic left heart, Apical muscular ventricular septal defect, Congenital diaph... OMIM:301022
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Aplasia of the 1st metacarpal, Micropenis, Pelvic kidney, Renal duplication, Shor... OMIM:227646
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Overlapping toe, Tapered finger, Cryptorchidism, 2-3 toe syndactyly, Oligohydram... OMIM:618653
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Lo... OMIM:608624
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal... OMIM:268400
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Neurogenic bladder, Anal stenosis, Block vertebrae, Missing ribs, Myelomeningoc... OMIM:613686
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... ORPHA:728
Joubert Syndrome 18
Lobulated tongue, Occipital encephalocele, Ventricular septal defect, Cleft palate OMIM:614815
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Gastrointestinal dysmotility, Patent foramen ovale OMIM:619189
Syndromic Diarrhea
Villous atrophy, Inguinal hernia, Gastritis, Renal hypoplasia, Wide nasal bridge, Colitis, Polycy... ORPHA:84064
Bardet-Biedl Syndrome 1
Decreased testicular size, Syndactyly, Brachydactyly, Aganglionic megacolon, Abnormality of the k... OMIM:209900
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Cystic renal dysplasia, Postaxial foot... OMIM:615989
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Cryptorchidism, Humero... OMIM:134780
Osteopetrosis With Renal Tubular Acidosis
Micrognathia, Persistence of primary teeth, Cranial nerve compression, Optic atrophy, Proximal re... ORPHA:2785
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect, Aganglionic megacolon OMIM:613870
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Metatarsus adductus, Osteopathia striata,... ORPHA:513456
Kallmann Syndrome
Hypoplasia of penis, Renal agenesis, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, Senso... ORPHA:478
8Q12 Microduplication Syndrome
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect ORPHA:228399
Marden-Walker Syndrome
Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, H... ORPHA:2461
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Tibial bowing, Femoral bowing, Knee flexion con... OMIM:601559
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Precocious puberty, Ethmoidal encephalocele ORPHA:280195
Bardet-Biedl Syndrome 6
Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Renal cyst, Vaginal ... OMIM:605231
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia, Low-set ears, Absent thumb OMIM:615272
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Perimembrano... OMIM:612474
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Inguinal hernia, Wide nose, Papilledema, Camptodactyly of finger, Heparan sulfate e... ORPHA:217085
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ... OMIM:602200
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly OMIM:600092
Turnpenny-Fry Syndrome
Mandibular prognathia, Prominent nasal tip, Torticollis, Overlapping toe, Polyhydramnios, Tapered... OMIM:618371
Pancreatic insufficiency, combined exocrine
Anasarca, Anal atresia OMIM:260450
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Short metacarpal, Microtia, third degree, Toe syndactyly, Ambiguous ... OMIM:200110
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Rectal prolapse, Colonic stenosis, Intussusception, Acute colitis ORPHA:90038
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint dislocation, Hallux valgus, Inguinal hernia, Genu recurvatum, Sandal gap, Recurrent shoulde... ORPHA:230851
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula ORPHA:935
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs... OMIM:227650
Native American Myopathy
Submucous cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, High palate, Talipes equ... ORPHA:168572
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Inguinal hernia, Wide nose, Papilledema, Camptodactyly of finger, Heparan sulfate e... ORPHA:217093
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of carpal bones ORPHA:1323
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology,... ORPHA:2556
Toriello-Carey Syndrome
Brachydactyly, Abnormal pinna morphology, Aganglionic megacolon, Micrognathia, Cryptorchidism, Cl... ORPHA:3338
Abcd Syndrome
Neonatal death, Aganglionic megacolon, Total intestinal aganglionosis OMIM:600501
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Hypoplasia of the odo... OMIM:250250
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs... OMIM:600901
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involving bones of t... ORPHA:371428
Martsolf Syndrome 1
Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger... OMIM:212720
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Mixed hearing impairment, Pneumonia, Oligosacchariduria, Macroglossia ORPHA:309288
Sotos Syndrome
Ureteral duplication, Tremor, No permanent dentition, Pedal edema, Vesicoureteral reflux, Conduct... ORPHA:821
Faundes-Banka Syndrome
Fetal ascites, Micrognathia, Premature thelarche, Cryptorchidism, Bulbous nose, Cupped ear, Under... OMIM:619376
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux, Umbilical hernia, Patent foramen oval... OMIM:613177
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli... ORPHA:1005
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
C Syndrome
Joint dislocation, Micromelia, Micrognathia, Polyhydramnios, High palate, Clinodactyly of the 5th... ORPHA:1308
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Aganglionic megacolon, Malabsorption ORPHA:452
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Hepatocellular carcinoma, Neopl... ORPHA:144
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... OMIM:613426
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Intestinal malrotation ORPHA:2143
Wildervanck Syndrome
Meningocele ORPHA:3456
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Pulsatile tinnitus OMIM:168000
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis OMIM:612591
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... ORPHA:3103
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Abnorm... ORPHA:284169
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Short metacarpal, Mixed hearing impairment, Optic atrophy, Wide nasal brid... OMIM:201180
Anophthalmia Plus Syndrome
Cleft palate, Spina bifida, Bilateral cleft lip and palate ORPHA:1104
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Depressed nasal bridge, Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Supern... OMIM:617088
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Malrotation of... ORPHA:139466
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, High palate OMIM:314320
Andersen Cardiodysrhythmic Periodic Paralysis
Short metacarpal, Toe syndactyly, Scapular winging, Short metatarsal, Small hand, Small finger, S... OMIM:170390
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ... OMIM:178110
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth, Mixed hearing impairment, Femoral bowing OMIM:126550
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Cleft palate, Mitral valve prolapse, Atrial s... OMIM:612561
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Hydrocephalus, Ventricular septal defect OMIM:218350
Osteoglophonic Dysplasia
Pseudoarthrosis, Short metacarpal, Bowing of the long bones, Rhizomelia, Camptodactyly of finger,... OMIM:166250
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Polyhydramnios, Calcaneovalgus deformity, Depressed nasal ridge, Neonat... OMIM:256520
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the colon, Malabsorption, Hepatocellular carcinoma, Neop... ORPHA:440437
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, High palate ORPHA:3369
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Triploidy
Intestinal malrotation, Hydrocephalus, Meningocele, Cleft palate, Macroglossia, Holoprosencephaly ORPHA:3376
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Bilateral cryptorc... ORPHA:2326
Craniofacial Microsomia 1
Occipital encephalocele, Ectopic kidney, Micrognathia, Hypoplasia of the maxilla, Anotia, Vesicou... OMIM:164210
Neurocardiofaciodigital Syndrome
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus OMIM:619869
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Methimazole Embryofetopathy
Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula ORPHA:1923
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... OMIM:208500
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Cleft palate ORPHA:1166
Microphthalmia, Syndromic 2
Anteverted ears, 2-3 toe cutaneous syndactyly, Contracture of the proximal interphalangeal joint ... OMIM:300166
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Inguinal hernia, Wide nose, Papilledema, Decreased ner... ORPHA:580
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Gastroesophageal reflux, Atria... OMIM:249270
Congenital Myopathy 13
Micrognathia, Cryptorchidism, Cleft palate, High palate, Bilateral talipes equinovarus, Low-set e... OMIM:255995
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Intestinal malrotation, Parachute mitral valve, Gastroesophageal reflu... OMIM:618316
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Wiedemann-Steiner Syndrome
Tapered finger, Contracture of the distal interphalangeal joint of the fingers, Short toe, Small ... OMIM:605130
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Cleft palate OMIM:147800
Generalized Arterial Calcification Of Infancy
Edema, Polyhydramnios, Hydrops fetalis, Nephrocalcinosis, Abnormal calcification of the carpal bo... ORPHA:51608
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Broad nasal tip, Cryptorchid... ORPHA:495875
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Cor pulmonale, Steatorrhea OMIM:219700
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Gastroesophageal reflux, Atrial septal defect, Umbilica... OMIM:619769
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holopros... ORPHA:77298
Waardenburg Syndrome Type 1
Cleft palate, Meningocele, Aganglionic megacolon, Spina bifida ORPHA:894
Wrinkly Skin Syndrome
Scapular winging, Muscular ventricular septal defect, Atrial septal dilatation, Hypoplasia of the... OMIM:278250
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism, Mixed hearing impairment, Recurrent pneumonia OMIM:620012
Tyshchenko Syndrome
Ventricular septal defect, High, narrow palate, Cleft palate, Narrow palate, High palate, Pulmoni... OMIM:615102
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Neoplasm of t... ORPHA:2241
Diabetic Embryopathy
Ventricular septal defect, Hydrocephalus, Cleft palate, Spinal dysraphism, Transposition of the g... ORPHA:1926
Mednik Syndrome
Neonatal death, Volvulus, Jejunal atresia, Microcolon OMIM:609313
Greenberg Dysplasia
Micromelia, Tetraphocomelia, Hypoplasia of the calcaneus, Neonatal death, Short phalanx of finger... OMIM:215140
Manitoba Oculotrichoanal Syndrome
Omphalocele, Anal stenosis, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Vaginal atr... OMIM:248450
Opsismodysplasia
Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ... OMIM:258480
Heart Defects, Congenital, And Other Congenital Anomalies
Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... OMIM:600001
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Mandibular prognathia, Mixed hearing impairment, Recurrent urinary t... ORPHA:309282
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... ORPHA:3426
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Truncus arteriosus, Ventricular septal defect, Cleft palate ORPHA:2516
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ovotestis, Cleft palate, Sex reversal, Lo... OMIM:611812
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect, High palate OMIM:620184
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Abnormal hand morphology, Short phalanx of finger, Broad finger, Small hand OMIM:300845
Mowat-Wilson Syndrome
Bifid scrotum, Mandibular prognathia, Urinary incontinence, Uplifted earlobe, Cleft hard palate, ... ORPHA:2152
Immunodeficiency 40
Focal active colitis, Rectal fistula OMIM:616433
Treacher Collins Syndrome 1
Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Cleft palate, Microtia, Abnorma... OMIM:154500
Esophageal Atresia
Omphalocele, Barrett esophagus, Renal agenesis, Abnormal external genitalia, Polyhydramnios, Inte... ORPHA:1199
Waardenburg Syndrome, Type 1
Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Congenital sensorineural hearing ... OMIM:193500
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs... OMIM:227645
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer ORPHA:454840
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Chronic gastritis, Single transverse palmar crease, Micrognathia, Bilatera... OMIM:150230
Hutchinson-Gilford Progeria Syndrome
Micrognathia, Osteoarthritis, High palate, Conductive hearing impairment, Limitation of movement ... ORPHA:740
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Cleft palate, Perimembranous ventricula... OMIM:600987
Shprintzen Omphalocele Syndrome
Omphalocele, Flared nostrils, Wide nasal bridge, Short columella, Anal atresia OMIM:182210
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Pentalogy Of Cantrell
Omphalocele, Encephalocele, Renal agenesis, Hypospadias, Abnormal tibia morphology, Split hand, H... ORPHA:1335
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Spina bifida ORPHA:1327
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Cleft palate OMIM:620210
Osteogenesis Imperfecta
Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthritis,... ORPHA:666
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventricular septal defect OMIM:602501
Kindler Epidermolysis Bullosa
Urethral stricture, Finger syndactyly, Recurrent skin infections, Camptodactyly of finger, Abnorm... ORPHA:2908
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, High palate, Cleft palate OMIM:609654
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect OMIM:618330
Nance-Horan Syndrome
Short phalanx of finger, Broad finger OMIM:302350
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Microcolon OMIM:619362
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short metacarpal, Limited elbow movement, Craniosynostosis, Preaxial hand polydactyly, Enlarged m... ORPHA:508533
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Intestinal malrotation, Dextrocardia, Partial anomalous pulmonary veno... OMIM:619657
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... OMIM:179613
Axenfeld-Rieger Syndrome, Type 1
Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge, Anal atresia OMIM:180500
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand, Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Intestinal malrotation, Cleft palate, Abnormal heart morphology, Bifid... ORPHA:404440
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... ORPHA:3427
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atres... ORPHA:436252
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Hydrocephalus, Cleft palate, Umbilical hernia, Hype... OMIM:612938
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Jansen-De Vries Syndrome
Gastroesophageal reflux, Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, ... ORPHA:329224
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Luscan-Lumish Syndrome
Advanced ossification of carpal bones OMIM:616831
Li-Fraumeni Syndrome
Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Neoplasm of the gastrointestinal trac... ORPHA:524
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Heart Block, Congenital
Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node OMIM:234700
Cystic Fibrosis
Meconium ileus, Malabsorption, Rectal prolapse, Gastroesophageal reflux, Steatorrhea ORPHA:586
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Macroglossia, High palate, Umbilical hernia... ORPHA:369891
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Recurrent skin infections, Anal fissure, Carious teeth, Esophageal stricture... ORPHA:89842
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Phimosis, Carious teeth, Urethral stenosis, Palmoplantar hype... OMIM:173650
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Cleft palate, Atrial septal defect, Patent foramen ovale, Right ventri... OMIM:614261
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Macrotia, Hy... ORPHA:3042
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Bilateral cleft lip and palate ORPHA:2003
Periventricular Nodular Heterotopia 7
Ventricular septal defect, Cleft palate OMIM:617201
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Ectopic kidney, Micrognathia, Anorectal anomaly, Triphalangeal t... ORPHA:233
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Macroglossia, Ventricular septal defect, Patent foramen ovale OMIM:615668
Skraban-Deardorff Syndrome
Ventricular septal defect, Cleft palate OMIM:617616
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Short phalanx of finger OMIM:208060
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation ORPHA:2328
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele, Short columella, Anal atresia ORPHA:3164
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, High palate OMIM:618950
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Intestinal malrotation, Cleft palate, Gastroesophageal reflux, Atrial ... ORPHA:457193
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Lambotte Syndrome
Ventricular septal defect, Semilobar holoprosencephaly OMIM:245552
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... ORPHA:363705
Orofaciodigital Syndrome V
Aganglionic megacolon, Ventricular septal defect, Hamartoma of tongue, Tetralogy of Fallot, Cleft... OMIM:174300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:49827
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Umbilical hernia, Pa... ORPHA:500159
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Ascites, Acholic ... OMIM:615710
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Cleft palate OMIM:614424
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Short clavicles, Wormian bones, Short pha... OMIM:608612
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Dysphagia OMIM:619909
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Anteriorly placed anus, Hypoplastic left heart,... OMIM:618748
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Anal fiss... ORPHA:79408
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy, High palate, Cleft palate OMIM:616730
King-Denborough Syndrome
Ventricular septal defect, High palate OMIM:619542
3P25.3 Microdeletion Syndrome
Ventricular septal defect, High, narrow palate, Pyloric stenosis, Cleft palate, Pulmonic stenosis... ORPHA:435638
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Spina bifida occulta, Cleft palate ORPHA:2311
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Short metacarpal, Aplasia/hypoplasia involving bones of the upper limbs, Metap... ORPHA:221016
Filippi Syndrome
Ventricular septal defect OMIM:272440
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Pelger-Huet Anomaly
Umbilical hernia, Ventricular septal defect, Median cleft palate OMIM:169400
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Noonan Syndrome 8
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:615355
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Meningocele ORPHA:2031
Pontocerebellar Hypoplasia, Type 8
Gastroesophageal reflux, Ventricular septal defect, Patent foramen ovale, Dysphagia OMIM:614961
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Abnormal fallopian tube ... ORPHA:3097
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Fibrous syngnathia, Cleft... OMIM:119500
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia ORPHA:2839
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Submucous cleft hard palate, ... ORPHA:457279
Leprechaunism
Hypertrophic cardiomyopathy, Rectal prolapse, Megarectum ORPHA:508
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Protruding tongue, High palate, Atrial septal ... OMIM:300963
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Duode... OMIM:619381
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Mandibular prognathia, Urinary incontinence, Uplifted earlobe, Cleft hard palate, ... ORPHA:261537
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Ta... OMIM:118650
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Dilated... OMIM:619343
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, La... OMIM:619269
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Choreoathetosis, Cholesteatoma, Dystonia OMIM:610978
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate ORPHA:261190
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Mosaic Trisomy 9
Ventricular septal defect, Intestinal malrotation, Dextrocardia, Abnormal heart valve morphology,... ORPHA:99776
Pyruvate Dehydrogenase E1-Alpha Deficiency
Gastroesophageal reflux, Ventricular septal defect ORPHA:79243
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Intellectual Developmental Disorder, Autosomal Dominant 47
Gastroesophageal reflux, Ventricular septal defect OMIM:617635
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation OMIM:619431
Frank-Ter Haar Syndrome
Bowing of the long bones, Delayed cranial suture closure, Metatarsus adductus, Flared metaphysis,... OMIM:249420
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Delayed closure of the anterior fontanelle, Short toe, Recurrent mandibular subluxations, Limb un... OMIM:225410
Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis, Bifid nasal tip ORPHA:2717
19P13.3 Microduplication Syndrome
Gastroesophageal reflux, Ventricular septal defect, Cleft palate ORPHA:447980
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Stillbirth, Blind vagina, Bicornuat... OMIM:608978
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Nicolaides-Baraitser Syndrome
Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ... OMIM:601358
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ... ORPHA:26793
Intellectual Developmental Disorder, Autosomal Dominant 48
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Alobar holoprosencephaly, Submucous cleft hard palate, Cleft palate, S... OMIM:301043
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect, High palate OMIM:617452
Classical Ehlers-Danlos Syndrome
Hiatus hernia, Rectal prolapse, Mitral valve prolapse, Gastroesophageal reflux, Tricuspid valve p... ORPHA:287
Rere-Related Neurodevelopmental Syndrome
Gastroesophageal reflux, Ventricular septal defect, Dysphagia, Abnormal heart morphology ORPHA:494344
Rothmund-Thomson Syndrome Type 1
Short metacarpal, Metaphyseal sclerosis, Patellar aplasia, Finger symphalangism, Patellar hypopla... ORPHA:221008
Costello Syndrome
Ventricular septal defect, Narrow palate, Mitral valve prolapse, Macroglossia, Gastroesophageal r... ORPHA:3071
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Median cleft palate ORPHA:1827
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Mandibular prognathia, Urinary incontinence, Uplifted earlobe, Cleft hard palate, ... ORPHA:261552
Trisomy 13
Atrial septal defect, High, narrow palate, Ventricular septal defect, Cleft palate ORPHA:3378
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect, Cleft palate ORPHA:1770
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:290
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Bicuspid aortic valve, Ventricular septal defect, Gast... ORPHA:453499
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, High palate, Dextrotransposition of the great arteries OMIM:619995
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Cardiomegaly OMIM:616897
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect, High palate ORPHA:505237
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Cleft palate, Esophagitis, Tetralogy of... OMIM:612562
Galloway-Mowat Syndrome 7
Ventricular septal defect, Dilated cardiomyopathy, High palate, Cleft palate OMIM:618348
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventricular septal defect OMIM:615630
Kury-Isidor Syndrome
Ventricular septal defect, High palate OMIM:619762
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Prominent metopic ridge, Rhizomelia, Craniosynostosis, Phalangeal cone-shaped epiphyses, Postaxia... OMIM:266920
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Ventricular septal defect, High palate, Dysphagia OMIM:617061
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Zellweger Syndrome
Pyloric stenosis, Ventricular septal defect, High palate, Malabsorption ORPHA:912
Beck-Fahrner Syndrome
Ventricular septal defect, High palate, Cardiomegaly OMIM:618798
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot, High palate OMIM:613398
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect OMIM:603387
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Intellectual Developmental Disorder, Autosomal Dominant 53
Gastrointestinal dysmotility, Ventricular septal defect, Intestinal malrotation, Duodenal atresia OMIM:617798
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Intestinal malrotation OMIM:222448
Short Stature-Micrognathia Syndrome
Gastroesophageal reflux, Ventricular septal defect, High palate, Cleft palate OMIM:617164
Holt-Oram Syndrome
Ventricular septal defect, Anomalous pulmonary venous return, Hypoplastic left heart, Atrial sept... ORPHA:392
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Cleft palate, Furrowed tongue, High palate, Gastroesophageal reflux, A... OMIM:616449
Neu-Laxova Syndrome 2
Cleft palate, High palate, Spina bifida OMIM:616038
Tetraamelia Syndrome 2
Glossoptosis, Ventricular septal defect, Ankyloglossia, Cleft palate OMIM:618021
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:615879
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Gastroesophageal reflux, Spina bifida occulta, Ventricular septal defect OMIM:617360
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Hypoplastic left heart,... ORPHA:2209
Bohring-Opitz Syndrome
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Narrow palate, Gastroe... OMIM:605039
Woods Syndrome
Ventricular septal defect OMIM:615236
Heart And Brain Malformation Syndrome
High, narrow palate, Ventricular septal defect, Gastroesophageal reflux OMIM:616920
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, High palate, Holoprosencephaly, Cleft palate OMIM:612530
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, High palate OMIM:270450
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Dysphagia OMIM:618325
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Cleft palate, Gastroesophageal reflux, Holoprosencephaly, Atrial septa... ORPHA:261236
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Hydrocephalus, Anencephaly, Cleft palate OMIM:313850
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Malakoplakia
Neoplasm of the rectum, Neoplasm of the colon ORPHA:556
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Intestinal malrotation, Coronary sinus enlarge... OMIM:618280
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... ORPHA:477817
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Cleft palate, Perianal dermatitis... OMIM:619573
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Double outlet right ventricle, High palate, Ventricular septal defect OMIM:616652
Coffin-Lowry Syndrome
Rectal prolapse, High palate, Narrow palate OMIM:303600
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Chromosome 9P Deletion Syndrome
Ventricular septal defect, High, narrow palate, Narrow palate, Perimembranous ventricular septal ... OMIM:158170
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... ORPHA:1686
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, High, narrow palate, Hydrocephalus, High palate, Umbilical hernia OMIM:613776
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, High palate, Protein-losing enteropathy, Cleft palate OMIM:235255
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, High palate, Cleft palate ORPHA:52055
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft palate, Submucous cleft hard palate, Ventricular septal defect, Dysplastic pulmo... OMIM:619103
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, High palate, Atrial sept... OMIM:121050
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula, A... OMIM:301030
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High palate OMIM:617022
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618870
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Overriding aorta, Ventricular septal defect OMIM:601927
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Narrow palate, Cleft palate, ... OMIM:610443
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Rectal abscess OMIM:608203
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Duodenal atresia OMIM:614114
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Atrioventricular canal defect, Pulmonic stenosis, Cleft palate OMIM:619123
Gm1 Gangliosidosis
Ventricular septal defect, Abnormal heart morphology, Macroglossia, Cardiomyopathy, Gastroesophag... ORPHA:354
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Hypospadias, Anteverted nares, Micrognathia, Tremor, Wide nasal bridg... OMIM:220111
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis OMIM:616559
Noonan Syndrome 10
Ventricular septal defect, Mitral valve prolapse, Hypertrophic cardiomyopathy, High palate, Pulmo... OMIM:616564
Loeys-Dietz Syndrome 5
Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ... OMIM:615582
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... ORPHA:2255
Liver Disease, Severe Congenital
Chronic gastritis, Micrognathia, Aminoaciduria, Protein-losing enteropathy, Hypospadias, Depresse... OMIM:619991
Ogden Syndrome
High, narrow palate, Ventricular septal defect ORPHA:276432
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Macroglossia, Gastroesophagea... ORPHA:261494
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, High, narrow palate, Pyloric stenosis, Cleft palate... ORPHA:261330
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:208085
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, High pal... OMIM:605275
Holoprosencephaly 14
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... OMIM:619895
Myopathy With Extrapyramidal Signs
Ventricular septal defect OMIM:615673
Chand Syndrome
Short fifth metatarsal, Hydroureter, Depressed nasal bridge, Cleft palate, Agenesis of maxillary ... ORPHA:1401
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:606003
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Vaginal drynes... ORPHA:95455
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, Gastroesophageal reflux, Ventricular septal defect, Dysphagia OMIM:619229
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Hydrocephalus, Spi... ORPHA:2162
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect OMIM:301039
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Ventricular septal defect, Cleft palate, High palate, Gastroesophageal ref... OMIM:610759
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Abnormal cardiac septum morphology, Gastroesophageal ref... ORPHA:2092
Feingold Syndrome 1
Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Esophageal atresia, Gastrointesti... OMIM:164280
Codas Syndrome
Ventricular septal defect ORPHA:1458
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect, High palate OMIM:309520
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:617516
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Leukocyte Adhesion Deficiency, Type I
Rectal abscess OMIM:116920
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Occipital meningocele OMIM:616546
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent foramen ovale, Ventricular septal defect, High palate OMIM:620113
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, High palate, Dysphagia ORPHA:261250
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect OMIM:617021
Keutel Syndrome
Ventricular septal defect ORPHA:85202
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect ORPHA:3078
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess OMIM:601495
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft palate, Hypoplastic left h... OMIM:100300
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula ORPHA:268249
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:488618
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:608149
Chops Syndrome
Ventricular septal defect, High, narrow palate, Anomalous pulmonary venous return, Gastroesophage... OMIM:616368
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele, Gastroesophageal reflux ORPHA:397715
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect OMIM:300998
Jacobsen Syndrome
Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Holoprosencephaly, Atrial septal defect OMIM:147791
Noonan Syndrome 3
Ventricular septal defect, Mitral valve prolapse, High palate, Pulmonic stenosis, Tricuspid valve... OMIM:609942
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, High palate, Intestinal malrotation OMIM:244450
Basal Cell Nevus Syndrome 1
Cleft palate, Hydrocephalus, Hamartomatous stomach polyps, Spina bifida OMIM:109400
Alagille Syndrome
Atrial septal defect, Spina bifida occulta, Ventricular septal defect ORPHA:52
Neu-Laxova Syndrome
Cleft palate, Submucous cleft hard palate, Bifid uvula, Spina bifida ORPHA:2671
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula, Abnormal cardiac ... OMIM:614294
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Cleft palate, Bifid uvula OMIM:614921
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Atrial sept... OMIM:263520
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ileus, Aganglionic megacolon, Microcolon ORPHA:163746
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Nail-Patella Syndrome
Cleft palate, Spina bifida OMIM:161200
Char Syndrome
Ventricular septal defect ORPHA:46627
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect OMIM:219730
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Aganglionic megacolon OMIM:609460
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Lathosterolosis
Meningocele, High palate ORPHA:46059
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Macroglossia, High palate, Gastroesophageal reflux, Patent foramen ovale OMIM:613457
Trichohepatoenteric Syndrome 1
Villous atrophy, Ventricular septal defect, Large placenta, Pulmonic stenosis, Tetralogy of Fallo... OMIM:222470
Phelan-Mcdermid Syndrome
Gastroesophageal reflux, Ventricular septal defect, High palate OMIM:606232
Hardikar Syndrome
Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis... OMIM:301068
Alg9-Cdg
Villous atrophy, Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Righ... ORPHA:79328
Velocardiofacial Syndrome
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palat... OMIM:192430
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Protruding tongue, High, narrow palate, Macroglossia, High palate, Dys... OMIM:214100
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect, High palate, Cleft palate ORPHA:251028
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, High palate, Spina bifida OMIM:234100
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect ORPHA:369929
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle... OMIM:610828
C Syndrome
Ventricular septal defect, High palate OMIM:211750
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, High, narrow palate, Cleft palate, Furrowed tongue, Atrial septal defect ORPHA:464738
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:145420
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Protruding tongue OMIM:212066
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Rectal abscess OMIM:233710
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Cohen Syndrome
High, narrow palate, Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Mitral valve pr... ORPHA:193
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... OMIM:617478
Weill-Marchesani Syndrome 1
Ventricular septal defect, Aortic valve stenosis, Pulmonic stenosis, Narrow palate OMIM:277600
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Rectal abscess OMIM:233690
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia OMIM:619351
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Hiatus hernia, Gastroesophageal reflux, Volvulus OMIM:616682
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:618775
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:2519
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Macroglossia, Gastroesophageal reflux, High palate, Steatorrhea OMIM:618268
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
19Q13.11 Microdeletion Syndrome
Ventricular septal defect ORPHA:217346
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, High palate, Pulmonic stenosis, Atrial septal defect, Patent foramen o... OMIM:617506
Rabson-Mendenhall Syndrome
Ventricular septal defect, Furrowed tongue, Macroglossia, Cardiomyopathy, High palate, Atrial sep... ORPHA:769
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Ventricular septal defect, Pyloric stenosis, Atrioventricular canal defect... ORPHA:818
Leigh Syndrome
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Ventricular septal defect, Dysphagia ORPHA:506
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect ORPHA:166035
Hajdu-Cheney Syndrome
Ventricular septal defect, Mitral stenosis, Intestinal malrotation, Hydrocephalus, Cleft palate, ... ORPHA:955
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Gastroesophageal reflux, Ventricular septal defect, High palate OMIM:614653
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, High, narrow palate, Hydrocephalus, Ventricular septal defect OMIM:619575
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Teebi-Shaltout Syndrome
High, narrow palate, Aortic valve stenosis, Ventricular septal defect, Cleft palate OMIM:272950
Pagod Syndrome
Encephalocele, Meningocele, Spina bifida ORPHA:991
Mosaic Trisomy 1
Ventricular septal defect, Cleft palate ORPHA:1692
Aicardi Syndrome
Hepatoblastoma, Cleft palate, Spina bifida, Hiatus hernia OMIM:304050
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Tbck-Related Intellectual Disability Syndrome
Macroglossia, High, narrow palate, Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect OMIM:616777
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, C... OMIM:300967
Fibular Hemimelia
Spina bifida ORPHA:93323
Weill-Marchesani Syndrome 2
Ventricular septal defect, Narrow palate, High palate, Pulmonic stenosis, Umbilical hernia, Aorti... OMIM:608328
De Barsy Syndrome
Umbilical hernia, Ventricular septal defect, High palate ORPHA:2962
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Mgat2-Cdg
Gastroesophageal reflux, Ventricular septal defect, Abnormal heart morphology ORPHA:79329
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Ventricular septal defect, Cleft palate OMIM:153400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Furrowed tongue, High palate, Gastroesophageal reflux, Patent foramen ... OMIM:616975
Hydrolethalus Syndrome 1
Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Cleft palate, Sti... OMIM:236680
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram... ORPHA:209905
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate ORPHA:251014
Peroxisome Biogenesis Disorder 5A (Zellweger)
Atrial septal defect, Ventricular septal defect, High palate, Cleft palate OMIM:614866
Diets-Jongmans Syndrome
Umbilical hernia, Ventricular septal defect, Duodenal atresia OMIM:618846
Trichothiodystrophy
High, narrow palate, Umbilical hernia, Ventricular septal defect, Cardiomyopathy ORPHA:33364
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Restrictive Dermopathy
Dextrocardia, Large placenta, Submucous cleft hard palate, Transposition of the great arteries, S... ORPHA:1662
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Granulomatous Disease, Chronic, X-Linked
Rectal abscess OMIM:306400
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, High palate, Pulmonic stenosis, Atrial septal defect, Hypertrophic car... OMIM:607721
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Cleft palate, Macroglossia, Pulmonic stenosis, Atrial ... OMIM:614609
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Cleft palate ORPHA:163979
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Macroglossia, High palate, Umbilical hernia ORPHA:96191
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, High, narrow palate, Narrow palate, Cleft palate, Mitral... OMIM:180849
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, High palate, Holoprosencephaly, Umbilical hernia, Patent foramen ovale OMIM:613884
Costello Syndrome
Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Mitral valve prolapse, Macroglossia, ... OMIM:218040
Arboleda-Tham Syndrome
Ventricular septal defect, Intestinal malrotation, Secundum atrial septal defect, Cleft palate, G... OMIM:616268
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Glossoptosis, High palat... OMIM:616145
Histiocytoid Cardiomyopathy
Hydrocephalus, Ventricular septal defect, Cleft palate, Cardiomegaly ORPHA:137675
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta, Pyloric stenosis OMIM:267750
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate OMIM:300712
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Ventricular septal defect, Cleft palate, Ventricular septal hyp... OMIM:608670
Microphthalmia, Syndromic 3
Esophageal atresia, Ventricular septal defect OMIM:206900
Viss Syndrome
Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... OMIM:619472
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Arima Syndrome
Occipital meningocele, Esophageal varix OMIM:243910
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Secundum atrial... OMIM:619534
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, High, narrow palate, Abnormal left ventricle morphology, Ebstein anoma... ORPHA:466791
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Cardiac myxoma, Neoplasm of the rectum, Hepatocellu... ORPHA:1359
Chime Syndrome
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Transposition of the great arteries... ORPHA:3474
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Gastroesophageal reflux, Bifid uvula, Spina bifida OMIM:619480
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... ORPHA:500095
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363958
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect, Cleft pa... ORPHA:1724
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Partial anomalous pulmonary venous return, Cleft palate, Gastroesophag... OMIM:301044
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Pulmonic stenosis, Atrial septal ... OMIM:602782
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Ventricular septal defect, Cleft palate OMIM:600460
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, High ... ORPHA:363700
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P... ORPHA:163956
Diamond-Blackfan Anemia
Ventricular septal defect, Cleft soft palate, Abnormal heart morphology, High palate, Adenocarcin... ORPHA:124
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Coffin-Siris Syndrome
Ventricular septal defect, Hepatoblastoma, Abnormal heart morphology, Atrial septal defect, Tetra... ORPHA:1465
Simpson-Golabi-Behmel Syndrome
Ventricular septal defect, Hepatoblastoma, High, narrow palate, Cleft palate, Macroglossia, Cardi... ORPHA:373
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, High, narrow palate, Pyloric stenosis, Hydrocephalus, Gl... ORPHA:3472
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Submucous cleft hard palate, Bifid uvula, Atrial septal defect, Atriov... ORPHA:3047
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition of the gr... ORPHA:99050
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect, High palate OMIM:619418
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Cleft palate, Atrial septal defect, Aortic valve... OMIM:139210
Marfan Syndrome
High, narrow palate, Meningocele, Cleft palate ORPHA:558
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Ventricular septal defect, High, narrow palate, Short uvula, Hydrocephalus... OMIM:619475
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Bifid uvula OMIM:613458
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect OMIM:619306
Mowat-Wilson Syndrome
Aganglionic megacolon, Ventricular septal defect, Pyloric stenosis, Submucous cleft hard palate, ... OMIM:235730
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect, Cleft palate ORPHA:1934
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Hepatoblastoma, Large placenta, Spinal dysraphism, Macroglossia, Atria... ORPHA:96334
Noonan Syndrome 1
Ventricular septal defect, High, narrow palate, Cleft palate, High palate, Pulmonic stenosis, Atr... OMIM:163950
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Gastroesophageal reflux, Dilatation of the ventricular cavity, Ventricular ... ORPHA:459070
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Hamartoma of tongue, Cleft palate, Aplasia of the epiglottis, Lobulate... ORPHA:434179
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Gastroesophageal ref... ORPHA:438213
Phace Association
Ventricular septal defect OMIM:606519
Congenital Disorder Of Glycosylation, Type Iiw
Gastroesophageal reflux, Ventricular septal defect, Tetralogy of Fallot, Ankyloglossia OMIM:619525
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect ORPHA:1519
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Tendon xanthomatosis, Myocardial steatosis ORPHA:391665
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Hydrocephalus, Frontal encephalocele, Cleft palate, Stillbirth, High p... OMIM:268300
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement OMIM:619268
Omodysplasia 1
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:258315
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect OMIM:123700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Ventricular septal defect, High palate, Bifid uvula OMIM:620330
Eisenmenger Syndrome
Ventricular septal defect, Aortopulmonary window, Abnormal heart morphology, Bacterial endocardit... ORPHA:97214
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary window OMIM:620025
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Keutel Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:245150
Yunis-Varon Syndrome
Ventricular septal defect, Pyloric stenosis, Cardiomyopathy, High palate, Tetralogy of Fallot, Pa... OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sall4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sall4.

No publications found that use IMPC mice or data for Sall4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sall4tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Sall4tm461843(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sall4tm236216(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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