Gene Summary

Name:
intraflagellar transport 122
Synonyms:
C86139,  sopb,  Wdr10

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular volume Ift122tm1a(EUCOMM)Wtsi HET   Early adult 2.65×10-07
decreased locomotor activity Ift122tm1a(EUCOMM)Wtsi HET Early adult 4.06×10-06
abnormal behavior Ift122tm1a(EUCOMM)Wtsi HET Early adult 1.52×10-06
increased circulating aspartate transaminase level Ift122tm1a(EUCOMM)Wtsi HET   Early adult 2.85×10-05

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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 Ift122 mutations

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

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

The table below shows human diseases associated to Ift122 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ift122 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Increased circulating ferritin concentration, Hypochromia OMIM:205950
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Spinal cord compression, Hydrocephalus ORPHA:85168
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Anemia, Decreased mea... OMIM:615234
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Polydactyly, Abnormal heart morphology, Upper limb phoc... ORPHA:294975
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Single transverse palmar crease, Clubbing of toes, Tracheoesophage... ORPHA:2437
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Hunter-Macdonald Syndrome
Long neck, 2-3 toe syndactyly, Patent ductus arteriosus, Mitral regurgitation, Aortic regurgitati... OMIM:611962
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Cutaneous finger syndactyly, Split hand, S... OMIM:183802
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
Mend Syndrome
Long neck, High palate, 2-3 toe syndactyly, Overlapping fingers, Hand polydactyly, Broad hallux, ... ORPHA:401973
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Megaloblastic anemia, Methylmalonic acidemia, Lethargy, Increased mean corpu... OMIM:277410
Melnick-Needles Syndrome
Long neck, Coxa valga, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Hypopla... OMIM:309350
Fibular Hemimelia
Fibular hypoplasia, Spina bifida, Abnormal morphology of ulna, Short tibia, Short toe, Arthralgia... ORPHA:93323
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Splenomegaly, Con... OMIM:616860
Triphalangeal Thumbs With Brachyectrodactyly
Brachydactyly, Short 2nd finger, Short 3rd toe, Triphalangeal thumb, Split hand, Split foot OMIM:190680
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Postaxial foot polydactyly, Ap... ORPHA:1113
Orofaciodigital Syndrome Xviii
Brachydactyly, Single transverse palmar crease, Sandal gap, Preaxial polydactyly, Short distal ph... OMIM:617927
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split hand, Split ... DECIPHER:46
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split hand, Split foot, Cleft palate OMIM:183700
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Preaxial hand polyd... ORPHA:380
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Polydactyly OMIM:615983
Camptodactyly Syndrome, Guadalajara, Type I
Brachydactyly, Long neck, Toe syndactyly, Bifid uvula, High palate, Short palm, Short femoral nec... OMIM:211910
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Dermatoglyphic ridges abnormal, Small thenar eminence, Small hypothenar eminence, Spina bifida, C... OMIM:211960
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus ORPHA:141333
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, 1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Mucopolysaccharidosis, Type Vi
Metaphyseal irregularity, Abnormal heart valve morphology, Flared iliac wing, Split hand, Hypopla... OMIM:253200
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Split foot, Hypoplastic right heart OMIM:601348
Holt-Oram Syndrome
Absent thumb, Paroxysmal atrial fibrillation, Finger syndactyly, Phocomelia, Patent ductus arteri... ORPHA:392
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Anencephaly, Postaxial hand polydactyly, Hydrocephalus, Preaxial foot... OMIM:614120
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Gastroschisis, Anencephaly, Hypoplastic left heart, Spina bifida, Ventricular septa... ORPHA:2476
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Faciodigitogenital Syndrome, Autosomal Recessive
Long neck, High palate, Clinodactyly of the 5th finger, Broad palm, Metatarsus adductus, Down-slo... OMIM:227330
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, Short distal phalanx of finge... ORPHA:957
Mosaic Trisomy 20
Long neck, Clinodactyly, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Down-slopi... ORPHA:1724
Ring Chromosome 4 Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the radius, Abnormality of the upper limb ORPHA:1447
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius ORPHA:2117
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Microgastria-Limb Reduction Defect Syndrome
Short thumb, Esophagitis, Abnormality of the humerus, Rectovaginal fistula, Phocomelia, Intestina... ORPHA:2538
Acrorenal Syndrome
Abnormality of the ulna, Abnormality of tibia morphology, Split hand, Cleft palate, Aplasia/Hypop... ORPHA:971
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Cooks Syndrome
Brachydactyly, Triphalangeal thumb, Split hand, Broad thumb ORPHA:1487
Tetramelic Monodactyly
Split hand, Split foot, Foot monodactyly, Hand monodactyly OMIM:187510
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Adams-Oliver Syndrome
Brachydactyly, Hydrocephalus, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Finger sy... ORPHA:974
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Split hand, Tapered finger, Split foot OMIM:220600
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of thumb, Proximal placemen... OMIM:218530
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Camptodactyly, Split hand, Syndactyly, Joint contracture of the hand OMIM:225280
Acromelic Frontonasal Dysostosis
Preaxial polydactyly, Polydactyly, Talipes equinovarus, Encephalocele, Syndactyly OMIM:603671
Mucolipidosis Ii Alpha/Beta
Macroglossia, Inguinal hernia, Metaphyseal widening, Cardiomegaly, Hip dislocation, Aortic regurg... OMIM:252500
Bardet-Biedl Syndrome 7
Clinodactyly, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly OMIM:615984
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Lethargy, Neutropenia, Increased mean corpuscular volume, Macr... ORPHA:2169
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand OMIM:612576
Charlie M Syndrome
Brachydactyly, Finger syndactyly, Triphalangeal thumb, Split hand, Abnormal metacarpal morphology ORPHA:1406
Meckel Syndrome, Type 2
Bowing of the long bones, Anencephaly, Polydactyly, Postaxial hand polydactyly, Meningocele, Ence... OMIM:603194
Occipital Horn Syndrome
Hiatus hernia, Long neck, High palate, Orthostatic hypotension, Coxa valga, Limited elbow extensi... OMIM:304150
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Split foot, Hand monodactyly OMIM:183800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Lethargy, Hemolytic anemia, Reticulocytosis, Decreased mean corp... OMIM:611590
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Split hand, Split foot OMIM:129810
Charcot-Marie-Tooth Disease, Axonal, Type 2E
High palate, Ulnar claw, Hammertoe, Hypotrophy of the small hand muscles, Split hand OMIM:607684
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short neck, Multiple palmar creases, Preaxial polydactyly, Mesomel... ORPHA:2756
Postaxial Tetramelic Oligodactyly
Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology, Abnormality of finger ORPHA:2730
Split-Hand And Split-Foot With Hypodontia
Split hand, Split foot OMIM:183500
Moebius Syndrome
Brachydactyly, Clinodactyly, High palate, Abnormality of pelvic girdle bone morphology, Short nec... OMIM:157900
Mucopolysaccharidosis, Type Ii
Short neck, Hepatosplenomegaly, Abnormal heart valve morphology, Congestive heart failure, Spleno... OMIM:309900
Focal Dermal Hypoplasia
Upper limb asymmetry, Inguinal hernia, Telangiectasia of the skin, Spina bifida, Ventricular sept... ORPHA:2092
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Long neck, High palate, Arachnodactyly, Hydrocephalus, Large hands OMIM:617011
Mmep Syndrome
Triphalangeal thumb, Split foot, Ventricular septal defect ORPHA:3434
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Postaxial foot polydactyly, Preaxial foot polydactyly, Broad hallux, Abnormal hear... OMIM:175700
2Q31.1 Microdeletion Syndrome
Abnormality of the ulna, Sandal gap, Clinodactyly of the 5th finger, Tapered finger, Inguinal her... ORPHA:251014
Acalvaria
Spina bifida, Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus ORPHA:945
Otofaciocervical Syndrome 1
Long neck, Scapular winging, Down-sloping shoulders OMIM:166780
Autosomal Recessive Faciodigitogenital Syndrome
Brachydactyly, Long neck, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Down-sl... ORPHA:1974
Silver-Russell Syndrome Due To A Point Mutation
Clinodactyly of the 5th finger, Short 5th finger, Polydactyly, Inguinal hernia, Ectrodactyly, Sma... ORPHA:397590
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Hydrocephalus, Single transverse palmar crease, 2-3 toe syndac... OMIM:617866
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Long neck, Coxa valga, Down-sloping shoulders OMIM:142625
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Phocomelia, Schinzel Type
Bowing of the long bones, Short neck, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis,... ORPHA:2879
Ivic Syndrome
Absent thumb, Small thenar eminence, Tetralogy of Fallot, Carpal synostosis, Hypoplasia of the ul... OMIM:147750
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, Patent ductus arteriosus, Atrial septal defect, Overlapping finger... OMIM:618142
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Split hand, Hammertoe OMIM:605726
Trisomy 13
Abnormality of pelvic girdle bone morphology, Cystic hygroma, Patent ductus arteriosus, Atrial se... ORPHA:3378
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Webbed neck, Finger syndactyly, Micromelia, Split hand, Cleft palate ORPHA:2145
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Pentalogy Of Cantrell
Hydrocephalus, Tetralogy of Fallot, Encephalocele, Abnormal pericardium morphology, Atrial septal... ORPHA:1335
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Patent ductus arteriosus, Atrial septal defect, Triphalangeal thumb, S... ORPHA:1120
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Split hand, Joint contracture of the hand, Intrinsic hand... ORPHA:399086
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Increased serum iron, Anemia, E... ORPHA:300298
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Hip dysplasia, Cleft palate, Hip disloca... ORPHA:93322
Opitz-Kaveggia Syndrome
Clinodactyly, Joint contracture of the hand, Inguinal hernia, Broad thumb, Cleft palate, Short ne... OMIM:305450
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Ulnar claw, Split hand OMIM:606595
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Patent ductus arteriosus, Preaxial foot polydac... ORPHA:65759
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Split hand, Hand muscle weakness ORPHA:100998
Charcot-Marie-Tooth Disease, Type 4B2
Talipes equinovarus, Ulnar claw, Split hand, Hammertoe OMIM:604563
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Charcot-Marie-Tooth Disease And Deafness
Split hand, Hammertoe OMIM:118300
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Bowing of the long bones, Carpal synostosis, Myelomeningocele, Abnorm... ORPHA:90652
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Split hand OMIM:246555
Thanatophoric Dysplasia Type 1
Brachydactyly, Bowing of the long bones, Short greater sciatic notch, Patent ductus arteriosus, A... ORPHA:1860
Eem Syndrome
Ectrodactyly, Finger syndactyly ORPHA:1897
Fatco Syndrome
Finger syndactyly, Abnormality of fibula morphology, Absent hand, Abnormality of tibia morphology... ORPHA:2492
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Split foot, Aplasia/Hypoplasia of the radius ORPHA:1122
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Ulnar claw, Split hand, Hammertoe OMIM:118220
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Split hand, Hammertoe, Distal upper limb amyotrophy OMIM:614455
Endocrine-Cerebroosteodysplasia
Brachydactyly, Hydrocephalus, Sandal gap, Preaxial polydactyly, Polydactyly, Micromelia, Natal to... OMIM:612651
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Postaxial hand polydactyly, Short humerus, Aplasia/Hypoplasia of the ulna, Abnormalit... ORPHA:2491
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Clinodactyly of the 5th finger, Preaxial polydactyly, Complete duplication of the 1st metatarsal OMIM:129540
Hypertrophic Neuropathy Of Dejerine-Sottas
Ulnar claw, Split hand, Hammertoe OMIM:145900
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Abnormality of ... ORPHA:83468
Isolated Klippel-Feil Syndrome
Webbed neck, Ectopic anus, Short neck, Abnormal shoulder morphology, Anal atresia, Spina bifida, ... ORPHA:2345
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... OMIM:102510
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Short neck, Atrial septal defect, Aplastic clavicle, Preaxial polydactyly, Anencep... OMIM:616546
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Charcot-Marie-Tooth Disease Type 4D
Upper limb amyotrophy, Split hand, Hammertoe, Distal upper limb muscle weakness ORPHA:99950
Meckel Syndrome, Type 8
Short neck, Polydactyly, Postaxial hand polydactyly, Talipes equinovarus, Encephalocele OMIM:613885
Limb Body Wall Complex
Aplasia of the proximal phalanges of the hand, Spina bifida, Forearm reduction defects, Ventricul... ORPHA:2369
Jackson-Weiss Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, 2-3 toe syndactyly, Abnormalit... ORPHA:1540
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Talipes equinovarus, Split hand OMIM:607831
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Acute myeloid leukemia, Abnormal mean c... ORPHA:86839
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Arachnodactyly, Long neck, Communicating hydrocephalus, High palate ORPHA:457359
Myopathy, Distal, 3
Split hand, Joint contracture of the hand OMIM:610099
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Fibular hypoplasia, Mesomelic leg shortening, Inguinal h... OMIM:609945
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Type B brachydactyly, Split hand, Short metatarsal, Aplasia/Hypoplasia of the distal phalanges of... OMIM:106990
Split-Hand/Foot Malformation 3
High palate, Camptodactyly, Split hand, Cleft palate OMIM:246560
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Laurin-Sandrow Syndrome
Hydrocephalus, Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Mirror image polyd... ORPHA:2378
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Short neck, Single transverse palmar crease, Rocker bottom foot, Neonatal death, Pau... OMIM:611890
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Ethanolaminosis
Cardiomegaly OMIM:227150
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Split hand OMIM:607706
Acrocardiofacial Syndrome
Toe syndactyly, Truncus arteriosus, Tetralogy of Fallot, Foot polydactyly, Finger syndactyly, Atr... ORPHA:2008
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Split hand OMIM:617882
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Limb-Mammary Syndrome
Bifid uvula, Syndactyly, Hallux valgus, Cleft palate, Camptodactyly, Split hand, Split foot, Join... OMIM:603543
Duane-Radial Ray Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Upper limb muscle hypoplasia, Absent... OMIM:607323
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal phalanx of the thumb, Absen... OMIM:120400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Ulnar claw, Split hand, Hammertoe OMIM:118200
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Postaxial hand polydactyly, Hyd... OMIM:607361
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Split hand OMIM:616688
Alopecia-Intellectual Disability Syndrome
Brachydactyly, Split hand ORPHA:2850
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Split hand OMIM:610127
Zaki Syndrome
Toe syndactyly, High palate, Patent foramen ovale, Patent ductus arteriosus, Broad distal phalanx... OMIM:619648
Brown-Vialetto-Van Laere Syndrome 2
Split hand, Dysphagia OMIM:614707
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Hand muscle weakness, Dis... ORPHA:101097
Bardet-Biedl Syndrome 4
Brachydactyly, Syndactyly, Polydactyly OMIM:615982
Schisis Association
Anencephaly, Tracheoesophageal fistula, Anal atresia, Micromelia, Omphalocele, Spina bifida, Clef... ORPHA:63862
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Large hands, Low posterior hairline ORPHA:85287
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Arrhythmia, Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowi... ORPHA:2878
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Branchiogenic-Deafness Syndrome
Branchial cyst, Short distal phalanx of finger, Branchial fistula OMIM:609166
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Short neck, Coloboma, Long fingers, H... ORPHA:1617
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Tetralogy of Fallot, Median cleft palate, Cranium bifidum occultum, ... OMIM:136760
Poland Syndrome
Abnormality of the ulna, Finger symphalangism, Unilateral brachydactyly, Cone-shaped epiphysis, D... ORPHA:2911
Dermatoosteolysis, Kirghizian Type
Split hand, Joint contracture of the hand OMIM:221810
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Metaphyseal irregularit... OMIM:603546
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly ORPHA:2091
Mucopolysaccharidosis Type 1
Abnormal hip bone morphology, Abnormal heart valve morphology, Abnormality of epiphysis morpholog... ORPHA:579
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Preaxial foot polydactyly, Postaxial hand polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Clinodactyly, Ectrodactyly, Iris coloboma, Cleft palate OMIM:147950
Carpenter Syndrome 1
Genu varum, Clinodactyly of the 5th finger, Complete duplication of proximal phalanx of the thumb... OMIM:201000
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Absent hand, Aniridia, Split hand ORPHA:2440
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Absent radius, Isomerism, Atrioventricular canal defect, Tracheoesophageal fistu... OMIM:314390
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Cantu Syndrome
Congenital hypertrophy of left ventricle, Short neck, Coxa valga, Broad first metatarsal, Patent ... OMIM:239850
Aplasia Cutis Congenita
Spinal dysraphism, Toe syndactyly, Finger syndactyly ORPHA:1114
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Single transverse palmar crease, Finger syndactyly, Tapered finger, Camptodactyly ORPHA:435938
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Sandal gap, Inguinal hernia, Ventri... ORPHA:1507
Mend Syndrome
2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long fingers, Hydrocephalus, Overlapping toe OMIM:300960
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Charcot-Marie-Tooth Disease, Type 4A
Ulnar claw, Split hand, Hammertoe OMIM:214400
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Orofaciodigital Syndrome Vi
Brachydactyly, Clinodactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial hand polydacty... OMIM:277170
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Rhizomelia, Preaxial polydactyly, Squared iliac bones, Natal tooth, Hyp... OMIM:616300
Congenital Neuronal Ceroid Lipofuscinosis
Split hand ORPHA:168486
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Camptodactyly, Short foo... OMIM:615170
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Absent proximal finger flexion creases, Aplasia/Hypop... ORPHA:2839
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Postaxial polydactyly OMIM:614175
Infantile Sialic Acid Storage Disease
High palate, Metaphyseal irregularity, Congestive heart failure, Splenomegaly, Hepatomegaly, Hydr... OMIM:269920
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Oligodactyly, Hypoplasia of the radius, Perineal fistula, Anal atresia, Ect... ORPHA:3016
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Lethargy, Neutropenia, ... ORPHA:124
Focal Dermal Hypoplasia
Foot polydactyly, Inguinal hernia, Cleft palate, Brachydactyly, Hand oligodactyly, Intestinal mal... OMIM:305600
Bardet-Biedl Syndrome 9
Brachydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly, Postaxial pol... OMIM:615986
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Metatarsal osteolysis, Carpal osteolysis, Broad metatarsal, Metac... OMIM:259600
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Anencephaly, Situs inver... ORPHA:1908
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Ventricular septal defect, Preaxial foot polydactyly OMIM:235750
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Short metacarpal, ... OMIM:617102
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Aplasia/Hypoplasia of the tongue, High palate, Hypoplasia of the ulna, Finger... ORPHA:958
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Heterotaxy, Iris coloboma, High, narro... ORPHA:3242
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Absent tibia, Metaphy... OMIM:613091
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Preaxial polydactyly, Acetabular spurs, Ventricular septal ... OMIM:615503
Diamond-Blackfan Anemia 7
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612562
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Hand muscle weakness, Hand muscle atrophy OMIM:607641
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Short neck, Cystic hygroma, Single transverse palmar crease, 2-3 toe syndactyly, C... OMIM:236500
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Preaxial hand polydactyly OMIM:606242
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Coloboma, Foot oligodactyly, Bilateral cleft lip and palate, Ventricular septal defe... OMIM:601357
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia involving the carpal bones, Aplasia of the ulna, Carpal bone aplasia, Aplasia/... OMIM:276820
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Atrioventricular canal defect, Cleft palate, Hip dislocation, Brachyda... ORPHA:818
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
2-4 toe cutaneous syndactyly, Short 5th metacarpal, Intrinsic hand muscle atrophy, Short 3rd toe,... OMIM:618569
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Short neck, Abnormality of epiphysis morphology, Rhizomelia, Triphalangeal thumb, ... ORPHA:3098
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Absent forearm, Aplasia/Hypoplasia of the ... OMIM:119100
Camptodactyly Syndrome, Guadalajara Type 1
Brachydactyly, Toe syndactyly, High palate, Short distal phalanx of finger, Spina bifida, Cubitus... ORPHA:1327
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, S... OMIM:610140
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Hand muscle atrophy OMIM:183020
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly ORPHA:1131
Abruzzo-Erickson Syndrome
Brachydactyly, Toe syndactyly, Chorioretinal coloboma, Atrial septal defect, Iris coloboma, Radio... ORPHA:921
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Anal atresia, Double outlet right ventricle, Pulmonic ... OMIM:220210
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Cutaneous syndactyly, Prolon... OMIM:601005
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Oligodactyly, Microglossia... ORPHA:1307
Thalidomide Embryopathy
Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Triphalangea... ORPHA:3312
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Fibular duplication, Short fo... OMIM:135750
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Talipes equinovarus, Split hand OMIM:604168
Hypoglossia-Hypodactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the tongue, High palate, Gastroschisis, Finger syndactyly, A... ORPHA:989
Orofaciodigital Syndrome Xvii
Clinodactyly, Central Y-shaped metacarpal, Partial duplication of thumb phalanx, Polydactyly, Sho... OMIM:617926
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, High palate, Syndactyly, Short thumb, Arachnodactyly, Inguinal herni... OMIM:600325
Branchiogenic Deafness Syndrome
Branchial cyst, Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the... ORPHA:50815
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Radial club hand, Short metacarpal, Preaxial hand polydactyly, Broad thumb, Short ... ORPHA:1278
Meckel Syndrome, Type 5
Bowing of the long bones, Postaxial foot polydactyly, Occipital encephalocele, Anencephaly, Posta... OMIM:611561
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Joubert Syndrome 18
Camptodactyly, Polydactyly OMIM:614815
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Weakness of the intrinsic hand muscles, Hand muscle atrophy, Weakness of long finger extensor mus... ORPHA:324442
Triploidy
Short neck, Finger syndactyly, Intestinal malrotation, Iris coloboma, Hepatomegaly, Macroglossia,... ORPHA:3376
15Q24 Microdeletion Syndrome
Abnormality of toe, Clinodactyly, Abnormal thumb morphology, Myelomeningocele, Brachydactyly, Ana... ORPHA:94065
Trisomy 4P
Radial club hand, Camptodactyly of finger, Preaxial hand polydactyly, Short neck ORPHA:1738
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Dysphagia OMIM:611637
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Cantú Syndrome
Short neck, Coxa valga, Finger syndactyly, Abnormal heart valve morphology, Patent ductus arterio... ORPHA:1517
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Abnormality of iron ho... ORPHA:231222
Caudal Duplication
Myelomeningocele, Intestinal duplication, Omphalocele, Spina bifida, Spinal cord lesion ORPHA:1756
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida, Bilateral cleft lip and palate, Cleft palate, Iris coloboma ORPHA:1104
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Cutaneous syndactyly OMIM:119580
Orofaciodigital Syndrome Type 6
Brachydactyly, Foot polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial pol... ORPHA:2754
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Syndactyly, Ventricular septal defect, Polydactyly OMIM:602501
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Mucolipidosis Iii Alpha/Beta
Short long bone, Shallow acetabular fossae, Aortic regurgitation, Irregular carpal bones, Soft ti... OMIM:252600
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly OMIM:601420
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad hallux phalanx, Finger syndactyly, Preaxial hand polydactyly, Exencephaly, Broad thumb, Enc... ORPHA:2211
Sirenomelia
Tracheoesophageal fistula, Anal atresia, Sirenomelia, Spina bifida, Aplasia/Hypoplasia of the radius ORPHA:3169
Iniencephaly
Gastroschisis, Myelomeningocele, Syringomyelia, Cystic hygroma, Rocker bottom foot, Rhizomelia, A... ORPHA:63259
Wolf-Hirschhorn Syndrome
Hypoplastic pubic rami, Abnormal heart valve morphology, Atrial septal defect, Iris coloboma, Sho... ORPHA:280
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Hypoplastic pubic bone, Short long b... OMIM:617925
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Acrorenal Syndrome, Autosomal Recessive
Split foot, Clinodactyly, Split hand, Radial deviation of finger OMIM:201310
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Bardet-Biedl Syndrome 17
Brachydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand pol... OMIM:615994
Vater/Vacterl Association
Tetralogy of Fallot, Patent ductus arteriosus, Absent radius, Occipital encephalocele, Preaxial p... OMIM:192350
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Nephronophthisis 15
Polydactyly OMIM:614845
Coronary Arterial Fistula
Cardiomegaly, Patent foramen ovale, Patent ductus arteriosus, Congestive heart failure, Abnormal ... ORPHA:2041
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Coloboma, Iris coloboma, Syndactyly OMIM:610023
Microphthalmia, Syndromic 8
Split foot, Cleft palate OMIM:601349
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Talipes equinovarus, Abnormal lower motor neuron morphology, Joint contracture of the hand OMIM:611067
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormality of the palmar creases, Atrial septal ... OMIM:618652
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Split hand, Foot polydactyly, Phocomelia, Duodenal atresia ORPHA:3004
Mohr Syndrome
Brachydactyly, Hydrocephalus, Metaphyseal irregularity, Partial duplication of the phalanges of t... OMIM:252100
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Lambotte Syndrome
Semilobar holoprosencephaly, Ventricular septal defect, Preaxial foot polydactyly OMIM:245552
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Congestive heart failure, Atrial s... ORPHA:860
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Short neck, Squared iliac bones, Metaphyseal cupping, Micromelia, Pulmonary a... OMIM:613320
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Dysphagia ORPHA:247604
Mosaic Trisomy 9
Endocardial fibroelastosis, Dextrocardia, Micromelia, Spina bifida, Ventricular septal defect, Cl... ORPHA:99776
Trisomy 18
Abnormal hip bone morphology, Webbed neck, Narrow palate, Deviation of finger, Atrial septal defe... ORPHA:3380
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Clubbing, Patent foramen ovale, Systolic heart murmur, Congestive heart... ORPHA:439
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure, Hydrocephalus OMIM:300886
Carpenter Syndrome 2
Brachydactyly, Webbed neck, Short neck, Patent ductus arteriosus, Postaxial polydactyly, Atrial s... OMIM:614976
Wolf-Hirschhorn Syndrome
Short thumb, Ventricular septal defect, Hip dysplasia, Cleft palate, Hip dislocation, Malrotation... OMIM:194190
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Bowing of the legs, Clubbing, 2-3 toe syndactyly, Atrial ... OMIM:617063
Distal 22Q11.2 Microdeletion Syndrome
Bowing of the long bones, Toe syndactyly, Coxa valga, Short palm, Atrial septal defect, Sandal ga... ORPHA:261330
Mulibrey Nanism
Single transverse palmar crease, Pericardial constriction, Congestive heart failure, Thickened co... OMIM:253250
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Camptobrachydactyly
Brachydactyly, Hand polydactyly, Short toe, Congenital finger flexion contractures, Syndactyly OMIM:114150
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Hand muscle weakness, Abnormality of the spinal cord,... ORPHA:99947
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Short tibia, Sho... OMIM:258860
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Short neck, Overlapping fingers, Omphalocele, Adducted thumb, Tali... OMIM:617022
Brachyolmia Type 3
Clinodactyly, Short femoral neck, Spinal cord compression, Proximal femoral metaphyseal irregular... OMIM:113500
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Cardiomegaly, Congestive heart failure OMIM:618654
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Sandal gap, Bilateral elbow dislocations, Inguinal hernia, Metacarpophalang... OMIM:245600
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Joubert Syndrome 23
Polydactyly OMIM:616490
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Spina bifida, Ventricular septal d... OMIM:274000
Joubert Syndrome 7
Postaxial hand polydactyly, Encephalocele, Postaxial polydactyly OMIM:611560
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Adams-Oliver Syndrome 5
Brachydactyly, Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, E... OMIM:616028
Fountain Syndrome
Brachydactyly, Abnormal metacarpal morphology, Short distal phalanx of finger, Spina bifida, Meta... ORPHA:3219
Hypomelia With Mullerian Duct Anomalies
Split hand, Postaxial hand polydactyly OMIM:146160
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Abnormalit... ORPHA:231214
Ritscher-Schinzel Syndrome 2
Clinodactyly, Protruding tongue, Patent ductus arteriosus, Atrial septal defect, Broad hallux, Sh... OMIM:300963
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly ORPHA:231140
Alg3-Cdg
High palate, Abnormality of the gastrointestinal tract, Abnormality of limb bone morphology, Meta... ORPHA:79321
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Heterotaxy, Absent inner dynein arms,... OMIM:613807
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Gastrointestinal dysmotility, Macroglossia, Ventricular septal defec... ORPHA:363705
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Duplication of phalanx of hallux, Preaxial hand polydactyly, Ventricular se... OMIM:263630
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, High palate, Hypoplasia of the ulna, Foot polydactyly, Narrow... OMIM:200980
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Short neck, Decreased fibular diameter, Hypertrophic cardiomyopathy, Flared metaphys... OMIM:616897
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Slender finger, Single transverse palmar crease, Patent foramen ovale, Patent ductus arteriosus, ... ORPHA:329224
Pelger-Huet Anomaly
Short 5th metacarpal, Short 4th metacarpal, Upper limb undergrowth, Polydactyly, Ventricular sept... OMIM:169400
Jacobsen Syndrome
Inguinal hernia, Hypoplastic left heart, Spina bifida, Ventricular septal defect, Short toe, Hip ... ORPHA:2308
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Chorioretinal coloboma, Cervical spina bifida, Short neck, Low posterior hairline OMIM:600122
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
Double Outlet Right Ventricle
Tetralogy of Fallot, Intestinal malrotation, Heterotaxy, Double outlet right ventricle, Pulmonic ... ORPHA:3426
Bardet-Biedl Syndrome 8
Situs inversus totalis, Polydactyly OMIM:615985
Eec Syndrome
Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ectrodactyly, Proximal placem... ORPHA:1896
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Short long bone, Postaxial polydactyly OMIM:615633
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Duplication of phalanx of hand, Clinodactyly of the 5th finger, Abnormality of the hand, Coloboma... ORPHA:508498
Holoprosencephaly
Abnormal pulmonary valve morphology, Brachydactyly, Tetralogy of Fallot, Short neck, Hand polydac... ORPHA:2162
Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Spina bifida, Dysphagia, Hydrocephalus, Cervical myelopathy OMIM:207950
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Hand muscle atrophy, Dysphagia, Abnormal upper motor neur... OMIM:205100
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Reduced ejection fraction, Arrhythmia, Congesti... ORPHA:85451
Joubert Syndrome 14
Postaxial polydactyly, Coloboma, Hypertension, Hydrocephalus, Encephalocele OMIM:614424
Brachydactyly, Type B1
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Joint contracture of the... OMIM:113000
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, Ventricul... ORPHA:453499
Au-Kline Syndrome
Deep palmar crease, Hip dysplasia, Overlapping toe, Postaxial polydactyly OMIM:616580
Acrocallosal Syndrome
Clinodactyly of the 5th finger, Tapered finger, Inguinal hernia, Coloboma, Cleft palate, Brachyda... OMIM:200990
Keratoderma Hereditarium Mutilans
Honeycomb palmoplantar hyperkeratosis, Autoamputation of digits, Abnormality of the spinal cord ORPHA:494
Cerebrocostomandibular Syndrome
Webbed neck, Myelomeningocele, Clinodactyly of the 5th finger, Hydranencephaly, Spina bifida, Sho... ORPHA:1393
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... OMIM:618278
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Hydrocephalus ORPHA:858
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Coloboma, Hydrocephalus ORPHA:324416
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Patent ductus arteriosus, Azoospermia, Unbalanced atrioventricular cana... OMIM:618300
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Abnormality of long bone morphology, Cardiomyopathy, Abnormal motor neu... ORPHA:52430
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Bowing of the long bones, Brachydactyly, Short long bone, Hypoplastic scapulae, Polydactyly, Micr... OMIM:614091
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Aortic valve stenosis, Atrial flutter, Abnormal atrioventricular valve... ORPHA:324410
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormality of the spinal cord, Acral ulceration ORPHA:139578
Verheij Syndrome
Clinodactyly, Short neck, Short 5th finger, Coloboma, Hip dislocation, Abnormal cardiac septum mo... OMIM:615583
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Developmental And Epileptic Encephalopathy 95
Brachydactyly, Single transverse palmar crease, Cystic hygroma, Short 4th metacarpal, Clinodactyl... OMIM:618143
Trisomy 1Q
Toe syndactyly, Cystic hygroma, Patent ductus arteriosus, Arachnodactyly, Preaxial hand polydacty... ORPHA:261344
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
Stromme Syndrome
Preaxial polydactyly, Stillbirth, Hydrocephalus OMIM:243605
Basal Cell Nevus Syndrome
Brachydactyly, Cardiac fibroma, Irregular ossification of hand bones, Short distal phalanx of the... OMIM:109400
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Hepatomegaly, Right bundle... OMIM:115197
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Broad hallux, Double outlet right ven... OMIM:217095
Laterality Defects, Autosomal Dominant
Heterotaxy, Situs inversus totalis OMIM:601086
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Congenital Sialidosis Type 2
Protruding tongue, Hepatosplenomegaly, Abnormal EKG, Hepatomegaly, Polydactyly, Inguinal hernia, ... ORPHA:93400
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, 4-5 finger syndactyly, Clinod... ORPHA:158687
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:614373
Yunis-Varon Syndrome
Abnormal pelvis bone morphology, Tapered finger, High, narrow palate, Hypertension, Ventricular s... ORPHA:3472
Suleiman-El-Hattab Syndrome
Brachydactyly, Webbed neck, Clinodactyly, High palate, Single transverse palmar crease, Patent fo... OMIM:618950
Joubert Syndrome 15
Polydactyly OMIM:614464
Trisomy 20P
Brachydactyly, Abnormal hip bone morphology, Ectopic anus, Short neck, Finger syndactyly, Inguina... ORPHA:261318
Grange Syndrome
Aortic regurgitation, Patent ductus arteriosus, Short palm, Hypertension, Ventricular septal defe... ORPHA:79094
Neu-Laxova Syndrome 1
Clinodactyly, Micromelia, Spina bifida, Ventricular septal defect, Cleft palate, Short neck, Pate... OMIM:256520
Cloacal Exstrophy
Myelomeningocele, Intestinal duplication, Abnormality of fibula morphology, Intestinal malrotatio... ORPHA:93929
3P25.3 Microdeletion Syndrome
Acromesomelia, Congenital pseudoarthrosis of the clavicle, Patent ductus arteriosus, Atrial septa... ORPHA:435638
Branchiootorenal Syndrome 1
Branchial cyst, Congenital hip dislocation, Branchial fistula OMIM:113650
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology, Azoospermia OMIM:613724
Curry-Jones Syndrome
Anal stenosis, Intestinal malrotation, Coloboma, Duplication of thumb phalanx, Preaxial hand poly... OMIM:601707
Joubert Syndrome 39
Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p... OMIM:619562
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Ventricular septal defect, Truncus arteriosus, Neonatal death, Mesomelia,... OMIM:228940
Nail-Patella Syndrome
Iliac horns, Disproportionate prominence of the femoral medial condyle, Absent distal interphalan... OMIM:161200
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Atrial septal defect, Occipital encephalocele, Preaxial polydactyly, Na... OMIM:615948
Adams-Oliver Syndrome 6
Brachydactyly, Portal hypertension, Esophageal varix, Foot oligodactyly, Ventricular septal defec... OMIM:616589
Distal 22Q11.2 Microduplication Syndrome
Toe syndactyly, Webbed neck, Patent ductus arteriosus, Tapered finger, Tricuspid valve prolapse, ... ORPHA:261337
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Abnormality of fibula mo... ORPHA:1988
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Split hand, Finger syndactyly, Cleft palate ORPHA:1300
Eisenmenger Syndrome
Abnormal B-type natriuretic peptide level, Elevated circulating C-reactive protein concentration,... ORPHA:97214
Coach Syndrome 1
Portal hypertension, Occipital encephalocele, Splenomegaly, Hepatomegaly, Esophageal varix, Colob... OMIM:216360
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Short neck, Patent foramen ovale, Macroglossia, Coloboma, Transposition of the grea... OMIM:616789
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Heart murmur, Pulmonic valve my... ORPHA:615
20P13 Microdeletion Syndrome
Brachydactyly, Clinodactyly, Finger syndactyly, Polydactyly ORPHA:313781
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Phocomelia, Absent radius, Patent du... OMIM:142900
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida, Hepatomegaly ORPHA:99742
Hemochromatosis, Type 1
Cardiomegaly, Arrhythmia, Congestive heart failure, Azoospermia, Telangiectasia, Splenomegaly, He... OMIM:235200
Hartsfield Syndrome
Ectrodactyly, Lobar holoprosencephaly, Cleft palate, Syndactyly OMIM:615465
Septooptic Dysplasia
Short finger, Polydactyly OMIM:182230
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Bicus... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Bicus... ORPHA:352665
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Ventricular septal defect, Hallux valgus, Tibial torsion, Cardiomegaly, Facial tela... OMIM:602782
9Q21.13 Microdeletion Syndrome
Syringomyelia, Hip dysplasia, Polydactyly ORPHA:531151
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Orofaciodigital Syndrome Type 4
Genu varum, Rectovaginal fistula, Bifid uvula, Finger syndactyly, Rectal atresia, Perineal fistul... ORPHA:2753
D-Bifunctional Protein Deficiency
High palate, Hammertoe, Splenomegaly, Hepatomegaly, Talipes equinovarus, Split hand OMIM:261515
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Patellar hypoplasia, Absent tibia, Talipes equinovarus, Mirror ima... OMIM:119800
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Meningocele, Encephalo... ORPHA:1827
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Abnormality of pelvic girdle bone morphology, Finger syndactyly, Patent ductus ar... ORPHA:1112
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Broad hallux, Postaxial polydactyly, Deviation of the 5th finger, Hip dysplasia OMIM:616362
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Acrocephalopolysyndactyly Type Iii
Short neck, Broad hallux, Preaxial hand polydactyly, Lower limb undergrowth, Broad thumb, Syndactyly OMIM:101120
Neuraminidase Deficiency
Epiphyseal stippling, Splenomegaly, Hepatomegaly, Inguinal hernia, Cardiomyopathy, Cardiomegaly OMIM:256550
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Dysphagia OMIM:606353
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomyopathy, Cardiomegaly, Short fourth metatarsal OMIM:266500
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, High palate, Patent ductus arteriosus, Isomerism, Atrial septal defect, Intestina... OMIM:619657
Meckel Syndrome, Type 1
Clinodactyly, Foot polydactyly, Radial deviation of finger, Syndactyly, Cleft palate, Bowing of t... OMIM:249000
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the radius, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Syn... OMIM:617895
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Brachydactyly, Single transverse palmar crease, Short palm, Branchial anomaly, Prominent fingerti... ORPHA:466950
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Semilobar holoprosencephaly, Toe syndactyly, Rectovaginal fistula, Absence of Stensen duct, Hand ... OMIM:129900
Fanconi Anemia
Abnormal thumb morphology, Abnormality of the ulna, Clinodactyly of the 5th finger, Abnormal aort... ORPHA:84
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Atrial septal defec... OMIM:616749
Vacterl/Vater Association
Finger syndactyly, Occipital encephalocele, Anencephaly, Preaxial hand polydactyly, Aplasia/Hypop... ORPHA:887
Curry-Jones Syndrome
Toe syndactyly, Foot polydactyly, Finger syndactyly, Preaxial hand polydactyly, Broad thumb, Abno... ORPHA:1553
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, ... ORPHA:91387
Acro-Renal-Ocular Syndrome
Abnormal thumb morphology, Radial club hand, Sandal gap, Short thumb, Coloboma, Short distal phal... ORPHA:959
Retinitis Pigmentosa 89
Esophageal varix, Hepatosplenomegaly, Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Bor Syndrome
Branchial cyst ORPHA:107
Rhombencephalosynapsis
Finger syndactyly, Short phalanx of finger, Tracheoesophageal fistula, Aganglionic megacolon, Ana... ORPHA:59315
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Abnormal lower motor neuron morphology, Abnormal upper motor n... ORPHA:275872
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