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Gene: Ift122 MGI:1932386

Gene Summary

Name:

intraflagellar transport 122

Synonyms:

C86139, sopb, Wdr10

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.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Ift122^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating aspartate transaminase level	Ift122^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.85×10^-05
increased mean corpuscular volume	Ift122^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.65×10^-07
abnormal behavior	Ift122^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.52×10^-06
decreased locomotor activity	Ift122^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.06×10^-06

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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.

Human diseases associated with Ift122 (2 diseases)
Human diseases predicted to be associated with Ift122 (773 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cranioectodermal Dysplasia		Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo...	ORPHA:1515
Cranioectodermal Dysplasia 1		Bicuspid aortic valve, Fibular hypoplasia, Radial deviation of finger, Rhizomelia, High, narrow p...	OMIM:218330

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

Disease	Matching phenotypes	Source
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Craniofacial Conodysplasia	Hydrocephalus, Spinal cord compression, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi...	OMIM:113100
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa...	OMIM:174200
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Polydactyly, Postaxial, Type A10	Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:618498
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P...	OMIM:618167
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Nevus Comedonicus Syndrome	Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly	ORPHA:64754
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar cre...	ORPHA:2437
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormality of the neck, Abnormal hip bone morphology, Abnormal heart mo...	ORPHA:294975
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli...	OMIM:183600
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th...	ORPHA:488232
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Hunter-Macdonald Syndrome	Long neck, Clinodactyly of the 5th finger, Cubitus valgus, Aortic regurgitation, Patent ductus ar...	OMIM:611962
Polydactyly, Preaxial I	Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu...	OMIM:174400
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine...	ORPHA:98870
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Mend Syndrome	Hydrocephalus, 2-3 toe syndactyly, High palate, Thickened nuchal skin fold, Aortic valve stenosis...	ORPHA:401973
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele	OMIM:213010
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi...	ORPHA:93323
Melnick-Needles Syndrome	Limited elbow extension, Stillbirth, Tricuspid valve prolapse, Genu valgum, Osteolytic defects of...	OMIM:309350
Split-Foot Malformation With Mesoaxial Polydactyly	Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly	OMIM:616890
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Jawad Syndrome	Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy...	OMIM:251255
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ...	OMIM:225280
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac...	DECIPHER:46
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe	OMIM:190680
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen...	OMIM:616860
Acropectoral Syndrome	Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx	OMIM:605967
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Aphalangy-Syndactyly-Microcephaly Syndrome	Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe...	ORPHA:1113
Syndactyly-Polydactyly-Earlobe Syndrome	1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly...	OMIM:186350
Mend Syndrome	Polydactyly, Redundant neck skin, Hydrocephalus, 2-3 toe syndactyly, High palate, Aortic valve st...	OMIM:300960
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane...	OMIM:277410
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Sideroblastic anemia, S...	OMIM:615234
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac...	OMIM:617927
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Camptodactyly, Spina bifida, Mitral valve prolapse, Dermatoglyphic ridges abnormal, Small hypothe...	OMIM:211960
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto...	OMIM:185000
Split-Foot Deformity With Mandibulofacial Dysostosis	Split foot, Toe syndactyly, Cleft palate, Split hand	OMIM:183700
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, ...	ORPHA:380
Meckel Syndrome, Type 11	Polydactyly, Occipital encephalocele	OMIM:615397
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrial septal defect, Atrioventricular canal defect, Triphalangea...	ORPHA:392
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Hypoalbuminemia, Thrombocytopeni...	OMIM:617021
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Ataxia, Thrombocytopenia	OMIM:613839
Ossification Of The Posterior Longitudinal Ligament Of Spine	Myelopathy, Spinal cord compression	OMIM:602475
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Hartsfield Syndrome	Encephalocele, Split hand, Lobar holoprosencephaly, Cleft palate, Aplasia/Hypoplasia of the radius	ORPHA:2117
Mosaic Trisomy 20	Abnormal spinal cord morphology, Limited pronation/supination of forearm, Clinodactyly, Abnormal ...	ORPHA:1724
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Clinodactyly of the 5th finger, Inguinal hernia, High palate, Short foot, Camptoda...	OMIM:227330
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu...	ORPHA:3246
Ectrodactyly-Polydactyly	Split foot, Split hand, Postaxial hand polydactyly	OMIM:225290
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	2-3 toe cutaneous syndactyly, High palate, Long fingers, Cleft palate, Short neck, Down-sloping s...	OMIM:301091
Acropectorovertebral Dysplasia	Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi...	ORPHA:957
Moebius Syndrome	Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Hi...	OMIM:157900
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Abnormal metacarpal morphology, Encephalocele, Finger syndactyly, Ab...	ORPHA:974
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Hepatomegaly, Inguinal hernia, Intestinal pseudo-obstruction, Hydroceph...	OMIM:309900
Lambert Syndrome	Branchial anomaly, Ventricular septal defect	ORPHA:1296
Tetramelic Monodactyly	Split foot, Foot monodactyly, Split hand, Hand monodactyly	OMIM:187510
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Preaxial foot polydactyly, Postaxial foot...	OMIM:614120
Cooks Syndrome	Broad thumb, Split hand, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive	Split foot, Split hand, Tapered finger	OMIM:220600
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Gastroschisis, Anencephaly, Ectopic anus, Spina bifida, Cleft palate, Aplasia/Hypoplasia of the r...	ORPHA:2476
Ring Chromosome 4 Syndrome	Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the...	ORPHA:1447
2Q31.1 Microdeletion Syndrome	Sandal gap, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology...	ORPHA:251014
Focal Dermal Hypoplasia	Hypoplastic pelvis, Split foot, Upper limb asymmetry, Abnormal palmar dermatoglyphics, Umbilical ...	ORPHA:2092
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly	OMIM:615984
Acrorenal Syndrome	Abnormal tibia morphology, Split hand, Cleft palate, Abnormal morphology of ulna, Aplasia/Hypopla...	ORPHA:971
Charlie M Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly	ORPHA:1406
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, Increased mean corpuscular volume, Hypometh...	ORPHA:2169
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Ventricular septal defect, Bilateral talipes equinovarus, Postaxial polydac...	OMIM:618142
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa...	ORPHA:232
Split-Hand And Split-Foot With Hypodontia	Split foot, Split hand	OMIM:183500
Orofaciodigital Syndrome Type 10	Metatarsal synostosis, Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm sh...	ORPHA:2756
Mmep Syndrome	Split foot, Ventricular septal defect, Triphalangeal thumb	ORPHA:3434
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Clinodactyly of the 5th finger, Small placenta, Inguinal hernia, Ectrodactyly, Cleft...	ORPHA:397590
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Lethargy, He...	OMIM:611590
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Greig Cephalopolysyndactyly Syndrome	1-3 toe syndactyly, Y-shaped metatarsals, Hydrocephalus, Postaxial hand polydactyly, 3-4 finger s...	OMIM:175700
Fibular Aplasia-Ectrodactyly Syndrome	Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ...	OMIM:617642
Occipital Horn Syndrome	Limited elbow extension, Long neck, Genu valgum, Orthostatic hypotension, Hiatus hernia, Short cl...	OMIM:304150
Autosomal Recessive Faciodigitogenital Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, High palate, Short foot, Brachydactyly, Down-s...	ORPHA:1974
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology	ORPHA:2730
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	High palate, Communicating hydrocephalus, Arachnodactyly, Large hands, Long neck	OMIM:617011
Acalvaria	Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Spina bifida	ORPHA:945
Anonychia-Ectrodactyly	Split hand, Aplasia of metacarpal bones	OMIM:106900
Trisomy 13	Bilateral single transverse palmar creases, High, narrow palate, Postaxial hand polydactyly, Ectr...	ORPHA:3378
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda...	OMIM:617866
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ...	OMIM:176240
Craniosynostosis, Herrmann-Opitz Type	Webbed neck, Finger syndactyly, Split hand, Micromelia, Cleft palate, Brachydactyly	ORPHA:2145
Thoraco-Abdominal Enteric Duplication	Diastomatomyelia, Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Meningocele, I...	ORPHA:1759
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Atrioventricular canal def...	ORPHA:1120
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotation, Apla...	ORPHA:2538
Carpenter Syndrome	Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Umbilical h...	ORPHA:65759
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Biemond Syndrome Ii	Hydrocephalus, Preaxial hand polydactyly	OMIM:210350
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Atrial septal defect, Patent ductus arteriosus, Short greater sci...	ORPHA:1860
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hypoplastic iliac wing, Sinus tachycardia, Cardiomyopathy, Flared iliac wing...	OMIM:253200
Pentalogy Of Cantrell	Abnormal tibia morphology, Anencephaly, Encephalocele, Hydrocephalus, Split hand, Omphalocele, Ab...	ORPHA:1335
Opitz-Kaveggia Syndrome	Radial deviation of finger, Prominent fingertip pads, Broad thumb, Intestinal malrotation, Abnorm...	OMIM:305450
Finnish Upper Limb-Onset Distal Myopathy	Intrinsic hand muscle atrophy, Split hand, Weakness of the intrinsic hand muscles, Joint contract...	ORPHA:399086
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, High, ...	ORPHA:2879
Otofaciocervical Syndrome 1	High palate, Scapular winging, Down-sloping shoulders, Long neck	OMIM:166780
Ivic Syndrome	Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H...	OMIM:147750
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Otopalatodigital Syndrome Type 2	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Encepha...	ORPHA:90652
Autosomal Dominant Spastic Paraplegia Type 17	Split hand, Hand muscle atrophy, Hand muscle weakness	ORPHA:100998
Charcot-Marie-Tooth Disease, Type 4B2	Hammertoe, Split hand, Ulnar claw, Talipes equinovarus	OMIM:604563
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, My...	ORPHA:93322
Charcot-Marie-Tooth Disease And Deafness	Thenar muscle atrophy, Split hand, Thenar muscle weakness, Hammertoe	OMIM:118300
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Splenomegaly, Bullet-s...	OMIM:252500
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ...	ORPHA:83468
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Humero-Radial Synostosis	Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Meningocele, Elbow ...	ORPHA:3265
Ulnar Hypoplasia-Split Foot Syndrome	Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna	ORPHA:1122
Limb Body Wall Complex	Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Abnormal intestine morphology...	ORPHA:2369
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity	Split hand	OMIM:246555
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno...	ORPHA:2491
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati...	ORPHA:300298
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hammertoe, Split hand, Ulnar claw	OMIM:118220
Jackson-Weiss Syndrome	Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Broad metatarsal, Split foot, S...	ORPHA:1540
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Webbed neck, Congenital muscular torticollis, Ectopic anus, Anal at...	ORPHA:2345
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo...	OMIM:146510
Charcot-Marie-Tooth Disease Type 4D	Upper limb amyotrophy, Distal upper limb muscle weakness, Hammertoe, Split hand	ORPHA:99950
Split-Hand/Foot Malformation 3	High palate, Split hand, Cleft palate, Camptodactyly	OMIM:246560
Meckel Syndrome, Type 2	Polydactyly, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the l...	OMIM:603194
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Split hand, Talipes equinovarus	OMIM:607831
Acces Syndrome	Clinodactyly of the 5th finger, Ectrodactyly, Tracheoesophageal fistula, Split foot, Hip dysplasi...	OMIM:619959
Myopathy, Distal, 3	Split hand, Joint contracture of the hand	OMIM:610099
Limb-Mammary Syndrome	Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hallux valgus, Join...	OMIM:603543
Wiedemann-Rautenstrauch Syndrome	Long neck, Talipes equinovarus, Slender long bone, Hydrocephalus, Hypoplastic ilia, Short femur, ...	OMIM:264090
Acropectorovertebral Dysplasia	Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th...	OMIM:102510
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Spastic Paraplegia 17, Autosomal Dominant	Thenar muscle atrophy, Split hand, Thenar muscle weakness	OMIM:270685
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Duane-Radial Ray Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr...	OMIM:607323
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Arachnodactyly, High palate, Long neck, Communicating hydrocephalus	ORPHA:457359
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Anencephaly, Encephalocele, Aplasia/Hypoplasia of the thumb, Finger synda...	ORPHA:1908
Acrocardiofacial Syndrome	Atrial septal defect, Abnormal metacarpal morphology, Finger syndactyly, Truncus arteriosus, Spli...	ORPHA:2008
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Abnormal anterior horn cell morphology, Single transverse palmar crease, High...	OMIM:611890
Zaki Syndrome	Broad distal phalanx of finger, Patent foramen ovale, High palate, Ectrodactyly, Hypoplasia of th...	OMIM:619648
Congenital Vertical Talus	Rocker bottom foot, Equinus calcaneus, Myelomeningocele	ORPHA:178382
Ethanolaminosis	Cardiomegaly	OMIM:227150
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hammertoe, Split hand, Ulnar claw	OMIM:118200
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Majeed Syndrome	Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid...	OMIM:609628
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot p...	OMIM:607361
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	High, narrow palate, Split hand	OMIM:618124
Coloboma Of Macula With Type B Brachydactyly	Coloboma, Absent distal phalanges, Broad distal phalanx of the thumb, Bifid distal phalanx of the...	OMIM:120400
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla...	ORPHA:2878
Alopecia-Intellectual Disability Syndrome	Split hand, Brachydactyly	ORPHA:2850
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho...	ORPHA:2378
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Anencephaly, Hydrocephalus, Micromelia, Postaxial polydactyly, Occipital me...	OMIM:616546
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Split hand, Hand musc...	ORPHA:101097
Bardet-Biedl Syndrome 4	Polydactyly, Syndactyly, Brachydactyly	OMIM:615982
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Split hand	OMIM:610127
Branchiogenic-Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Branchial cyst	OMIM:609166
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Single transve...	OMIM:612651
Brown-Vialetto-Van Laere Syndrome 2	Split hand, Dysphagia	OMIM:614707
Verheij Syndrome	Short 5th finger, Truncus arteriosus, Clinodactyly, Short neck, Ventricular septal defect, Branch...	OMIM:615583
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, E...	OMIM:616300
Charcot-Marie-Tooth Disease, Dominant Intermediate G	Split hand	OMIM:617882
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Broad thumb...	ORPHA:1507
Poland Syndrome	Aplasia of the pectoralis major muscle, Low posterior hairline, Cone-shaped epiphysis, Finger sym...	ORPHA:2911
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Postaxial hand polydactyly, Bowing of the...	OMIM:611134
Schisis Association	Anencephaly, Encephalocele, Anal atresia, Omphalocele, Micromelia, Spina bifida, Tracheoesophagea...	ORPHA:63862
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Large hands, Low posterior hairline	ORPHA:85287
2Q24 Microdeletion Syndrome	Coloboma, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenching, Lo...	ORPHA:1617
Isolated Split Hand-Split Foot Malformation	Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Meckel Syndrome, Type 8	Polydactyly, Occipital encephalocele, Encephalocele, Pericardial effusion, Short neck, Talipes eq...	OMIM:613885
Carpenter Syndrome 1	Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilica...	OMIM:201000
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Intrinsic hand muscle atrophy, Split hand	OMIM:616688
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cleft palate, Ectrodactyly, Clinodactyly, Iris coloboma	OMIM:147950
Multicentric Osteolysis, Nodulosis, And Arthropathy	Metacarpal osteolysis, Thin metacarpal cortices, Carpal osteolysis, Thin metatarsal cortices, Fin...	OMIM:259600
Hypertrophic Neuropathy Of Dejerine-Sottas	Hammertoe, Split hand, Ulnar claw	OMIM:145900
Frontonasal Dysplasia 1	Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Coloboma, Postaxial hand polydact...	OMIM:136760
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Single transverse palmar crease, Branchial cyst, Camptodactyly, Tapered finger	ORPHA:435938
Joubert Syndrome 16	Polydactyly, Encephalocele	OMIM:614465
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand polydactyly	ORPHA:2091
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Trident ...	OMIM:614815
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Rectovaginal fistula, Hydrocephalus, Oligodactyly, Perineal fistula, Ec...	ORPHA:3016
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Limited elbow movement, Broad neck, Cardiomegaly, Ventricular hypertroph...	OMIM:300280
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Ataxia, Leukopenia, Thrombocytopenia,...	OMIM:127550
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a...	ORPHA:958
Partial Atrioventricular Septal Defect	Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ...	ORPHA:1330
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:604765
Mucopolysaccharidosis Type 1	Abnormal metaphysis morphology, Congestive heart failure, Abnormal aortic valve morphology, Abnor...	ORPHA:579
Triploidy	Iris coloboma, Hepatomegaly, Meningocele, Finger syndactyly, Hydrocephalus, Omphalocele, Intestin...	ORPHA:3376
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat...	OMIM:616959
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Iris coloboma, Prominent protruding coccyx, Hydranencephaly, Dis...	ORPHA:2839
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Hepatomegaly, Severely reduced left ventricular ejection fraction, Aortic...	OMIM:252600
Focal Dermal Hypoplasia	Aniridia, Short metacarpal, Myelomeningocele, Split foot, Intestinal malrotation, Umbilical herni...	OMIM:305600
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Preaxial hand polydactyly, Interphalangeal joint contracture of finger	OMIM:606242
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Short hallux, Pericardial effusion...	OMIM:239850
Congenital Neuronal Ceroid Lipofuscinosis	Split hand	ORPHA:168486
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hepatomegaly, Hydrocephalus, High palate, Splenomegaly, Metaphyseal irr...	OMIM:269920
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax...	OMIM:615986
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Mesomelia, Gastroschisis, Hip dislocation, Aganglionic megacolon, Rh...	ORPHA:818
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	2-4 toe cutaneous syndactyly, Short 4th metacarpal, Muscular ventricular septal defect, Split han...	OMIM:618569
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Redundant neck skin, Clinodactyly of the 5th finger, Hydranencephaly, Single transver...	OMIM:236500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness	OMIM:607641
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, High palate, Anal atresia...	ORPHA:989
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, Abnormality of the humerus, Pulmonic s...	ORPHA:3098
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Femoral bowing, Short long bone, Acetabular spurs, Postaxial polydactyly, S...	OMIM:615503
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Anemia, Increased serum bile acid concentration, Macrocytic a...	ORPHA:811
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing...	OMIM:613091
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect, Polysyndactyly of hallux, Preaxial foot polydactyly	OMIM:235750
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,...	OMIM:617052
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Wildervanck Syndrome	Short neck, Low posterior hairline, Webbed neck, Meningocele	ORPHA:3456
Renpenning Syndrome	Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Heterotaxy, Anal ...	ORPHA:3242
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Bardet-Biedl Syndrome 22	Polydactyly, Postaxial foot polydactyly	OMIM:617119
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Isomerism, Transposition of the great arteries, Atrioventricular canal defect, Proximal placement...	OMIM:314390
X-Linked Mandibulofacial Dysostosis	Pulmonic stenosis, Branchial anomaly, Webbed neck, Abnormal mitral valve morphology	ORPHA:1131
Joubert Syndrome 17	Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular...	OMIM:617102
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Camptodactyly, Postaxial polyda...	OMIM:614175
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612562
Trichothiodystrophy 6, Nonphotosensitive	Decreased mean corpuscular volume, Increased HbA2 hemoglobin, Broad-based gait	OMIM:616943
Camptodactyly Syndrome, Guadalajara Type 1	Cubitus valgus, Scapular winging, High palate, Spina bifida, Camptodactyly of finger, Short toe, ...	ORPHA:1327
Neural Tube Defects, Susceptibility To	Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Bardet-Biedl Syndrome 19	Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Patent ductus...	OMIM:615996
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Broad neck, Carpal bone aplasia, Aplasia/Hypoplasia of the phala...	OMIM:276820
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Coloboma, Bilateral cleft palate, Omphalocele, Foot oligodactyly, Holopro...	OMIM:601357
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology	OMIM:183020
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli...	OMIM:610140
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Split hand, Talipes equinovarus	OMIM:604168
Branchiogenic Deafness Syndrome	Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Branchial...	ORPHA:50815
Orofaciodigital Syndrome Xvii	Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication of thumb phala...	OMIM:617926
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Split hand, Weakness of the intrinsic hand muscles, Camptodactyly of finger, Intrinsic hand muscl...	ORPHA:324442
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Brachydactyly-Preaxial Hallux Varus Syndrome	Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Brachydactyly, Preaxial hand p...	ORPHA:1278
Craniorachischisis	Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Abruzzo-Erickson Syndrome	Coloboma, Cleft palate, Short toe, Chorioretinal coloboma, Brachydactyly, Radioulnar synostosis, ...	ORPHA:921
Diaphanospondylodysostosis	Short neck, Narrow pelvis bone, Myelomeningocele	ORPHA:66637
Vater/Vacterl Association	Occipital encephalocele, Hypoplasia of the radius, Transposition of the great arteries, Preaxial ...	OMIM:192350
Trisomy 4P	Preaxial hand polydactyly, Short neck, Radial club hand, Camptodactyly of finger	ORPHA:1738
Caudal Duplication	Intestinal duplication, Myelomeningocele, Omphalocele, Spina bifida, Spinal cord lesion	ORPHA:1756
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Foot polydactyly, Hand ...	ORPHA:2754
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad thumb, Preaxial hand polydactyly, Broad hallux phalanx, E...	ORPHA:2211
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Anophthalmia Plus Syndrome	Bilateral cleft palate, Spina bifida, Deviation of finger, Cleft palate, Iris coloboma	ORPHA:1104
Isolated Hemihyperplasia	Myelomeningocele	ORPHA:2128
Nephronophthisis 15	Polydactyly	OMIM:614845
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Dysphagia	OMIM:611637
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Coloboma, Anal atresia, Low posterior hairline, Pulmonic stenosis, Aortic valve st...	OMIM:220210
15Q24 Microdeletion Syndrome	Abnormal thumb morphology, Proximal placement of thumb, Coloboma, Myelomeningocele, Anal atresia,...	ORPHA:94065
Wolf-Hirschhorn Syndrome	Abdominal situs inversus, Iris coloboma, Hypoplastic pubic ramus, Short hallux, Abnormal heart va...	ORPHA:280
Subependymal Nodular Heterotopia	Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele	ORPHA:101030
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short long bone, Brachydactyly	OMIM:613819
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he...	ORPHA:231222
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Foot polydactyly, Phocomelia, Split hand, Duodenal atresia	ORPHA:3004
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Microphthalmia, Syndromic 8	Split foot, Cleft palate	OMIM:601349
Fixed Subaortic Stenosis	Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve...	ORPHA:3092
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Abnormality of the palmar creases, Patent foramen ovale, Coloboma, Tricuspid...	OMIM:618652
Carpenter Syndrome 2	Broad neck, Broad thumb, Umbilical hernia, Transposition of the great arteries, Camptodactyly, Pa...	OMIM:614976
Developmental Delay, Language Impairment, And Ocular Abnormalities	Inguinal hernia, Tethered cord, Myelomeningocele, Pulmonic stenosis, Facial telangiectasia, Contr...	OMIM:620141
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Polydactyly, Ventricular septal defect, Syndactyly	OMIM:602501
Cantú Syndrome	Abnormal metaphysis morphology, Cardiomegaly, Patent ductus arteriosus, Short hallux, Finger synd...	ORPHA:1517
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Talipes equinovarus, Joint contracture of the hand	OMIM:611067
Fliedner-Zweier Syndrome	Meningocele, Tethered cord, High palate, Tracheoesophageal fistula, Anal atresia, Bicuspid aortic...	OMIM:620511
Sirenomelia	Sirenomelia, Tracheoesophageal fistula, Anal atresia, Spina bifida, Aplasia/Hypoplasia of the radius	ORPHA:3169
Joubert Syndrome 14	Encephalocele, Meningocele, Hydrocephalus, Coloboma, Hypertension, Postaxial polydactyly, Cleft p...	OMIM:614424
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy...	OMIM:614096
Autosomal Recessive Spondylocostal Dysostosis	Spina bifida occulta, Meningocele, Finger syndactyly, Inguinal hernia, Camptodactyly of finger, C...	ORPHA:2311
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide distal femoral metaphysis, Cardiomegaly, Delayed epiphyseal ossification, Metaphyseal cuppin...	OMIM:613320
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Posta...	OMIM:611561
Distal 22Q11.2 Microdeletion Syndrome	Clinodactyly of the 5th finger, Sandal gap, Truncus arteriosus, Bowing of the long bones, Arachno...	ORPHA:261330
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, Tibial bowing, Postaxial hand polydactyly, Central Y...	OMIM:277170
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Syndactyly, Cardiomegaly	OMIM:613576
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Hip...	OMIM:210710
Coronary Arterial Fistula	Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent...	ORPHA:2041
Wolf-Hirschhorn Syndrome	Low posterior hairline, Malrotation of small bowel, Hip dislocation, Hydrocephalus, Cleft palate,...	OMIM:194190
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Posteriorly placed anus, Short long bone, Myelomeningocele, Pulmonic stenosis, C...	OMIM:306955
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Syndactyly, Brachydactyly, Clinodactyly, Iris coloboma	OMIM:610023
Iniencephaly	Rocker bottom foot, Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelome...	ORPHA:63259
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hydrocephalus, Triceps weakn...	ORPHA:99947
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Dysphagia	ORPHA:247604
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Low posterior hairline, Mitral valve pro...	OMIM:245600
Curry-Jones Syndrome	Triphalangeal hallux, Lipomyelomeningocele, Broad thumb, Duplication of thumb phalanx, 3-4 toe sy...	OMIM:601707
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly, Encephalocele	OMIM:611560
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Brachydactyly, Toe synda...	OMIM:258860
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Epiphyseal dysplasia, Clinodactyly, Flattened epiphysis, Tapered finger	OMIM:607131
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg...	ORPHA:860
Bardet-Biedl Syndrome 17	Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda...	OMIM:615994
Mosaic Trisomy 9	Rocker bottom foot, Intestinal malrotation, Hip dislocation, Deep palmar crease, Micromelia, Clef...	ORPHA:99776
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Broad neck, Proximal placement of thumb, Webbed neck, Hydrocephalus, Elbow f...	OMIM:613776
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Neural tube defect, Clinodactyly	OMIM:119580
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Ventricular septal defect...	OMIM:601005
Brachyolmia Type 3	Radial deviation of finger, Short femoral neck, Proximal femoral metaphyseal irregularity, Clinod...	OMIM:113500
Orofaciodigital Syndrome Ii	Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Hydrocephalus...	OMIM:252100
Trisomy 18	Bilateral single transverse palmar creases, Narrow palate, Cyclopia, Abnormal hip bone morphology...	ORPHA:3380
Mulibrey Nanism	Congestive heart failure, Hepatomegaly, Cardiomegaly, Single transverse palmar crease, Pericardia...	OMIM:253250
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Hydrocephalus, Myelomeningocele, Brachydactyly, Short distal phalanx of fin...	ORPHA:1914
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia...	OMIM:274000
Hypomelia With Mullerian Duct Anomalies	Split hand, Postaxial hand polydactyly	OMIM:146160
Lambotte Syndrome	Semilobar holoprosencephaly, Ventricular septal defect, Preaxial foot polydactyly	OMIM:245552
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Phaver Syndrome	Triphalangeal thumb, Myelomeningocele, Broad thumb, Camptodactyly of finger, Short thumb, Radioul...	ORPHA:2876
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure, High palate	OMIM:618654
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Congestive heart failure, Cardiomegaly	OMIM:300886
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Narrow palate, Elbow flexion contracture, Split...	OMIM:200980
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Absent inner dynein arms, Heterotaxy, Abnormal axonemal organization of r...	OMIM:613807
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Clinodactyly of the 5th finger, Patent ductus arteriosus, Inguinal hernia, Gastroesophageal reflu...	ORPHA:329224
Intellectual Developmental Disorder, Autosomal Dominant 72	Broad palm, Short neck, Spina bifida	OMIM:620439
Alg3-Cdg	Abnormality of the gastrointestinal tract, Neural tube defect, High palate, Cardiomyopathy, Abnor...	ORPHA:79321
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Webbed neck, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Short ne...	OMIM:616897
Fountain Syndrome	Abnormal metacarpal morphology, Spina bifida occulta, Spina bifida, Large hands, Coarse metaphyse...	ORPHA:3219
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Upper limb asymmetry, Clinodactyly of the 5th finger	ORPHA:231140
Adams-Oliver Syndrome 5	Inguinal hernia, Patent foramen ovale, Esophageal varix, Pulmonary arterial hypertension, Right a...	OMIM:616028
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Lateral Meningocele Syndrome	Syringomyelia, High, narrow palate, Dural ectasia, Inguinal hernia, Meningocele, High palate, Low...	ORPHA:2789
Chiari Malformation Type Ii	Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida	OMIM:207950
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl...	ORPHA:231226
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Short 3rd metacarpal, Umbilical hernia...	OMIM:169400
Polysyndactyly With Cardiac Malformation	Stillbirth, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Atrial septa...	OMIM:263630
Ciliary Dyskinesia, Primary, 44	Heterotaxy	OMIM:618781
Neu-Laxova Syndrome 2	Rocker bottom foot, Finger syndactyly, High palate, Spina bifida, Short neck, Cleft palate, Toe s...	OMIM:616038
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Branchial anomaly, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Enlarged Parietal Foramina	Broad thumb, Occipital encephalocele, Short clavicles, Myelomeningocele	ORPHA:60015
Eec Syndrome	Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Split hand, Ectr...	ORPHA:1896
Joubert Syndrome 23	Polydactyly	OMIM:616490
Lethal Congenital Contracture Syndrome 10	Narrow palate, Stiff neck, Torticollis, Short long bone, Femoral bowing, High palate, Omphalocele...	OMIM:617022
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Short long bone, Brachydactyly	OMIM:615633
Beta-Thalassemia Major	Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me...	ORPHA:231214
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Bicuspid aortic valve, Short 5th finger, Overlapping toe, Hip dislocation, Abnormali...	ORPHA:508498
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Aortic valve stenosis, Bicuspid aortic valve, Cardiomegaly, Pulmonar...	ORPHA:363705
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Double Outlet Right Ventricle	Heterotaxy, Truncus arteriosus, Pulmonic stenosis, Intestinal malrotation, Cleft palate, Tetralog...	ORPHA:3426
Jacobsen Syndrome	Aortic valve stenosis, Intestinal malrotation, Abnormality of the anus, Hip dislocation, Inguinal...	ORPHA:2308
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology, Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis	ORPHA:494
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Webbed neck, Hydranencephaly, Meningocele, Short hard palate, Glo...	ORPHA:1393
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef...	OMIM:115197
Holoprosencephaly	Encephalocele, Hydrocephalus, Branchial anomaly, Hand polydactyly, Holoprosencephaly, Tetralogy o...	ORPHA:2162
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:588
Suleiman-El-Hattab Syndrome	Polydactyly, Inguinal hernia, Webbed neck, Single transverse palmar crease, Patent foramen ovale,...	OMIM:618950
Congenital Toxoplasmosis	Hydrocephalus, Hepatomegaly, Cardiomegaly	ORPHA:858
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia	OMIM:616910
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Congestive heart failure, Abnormal long bone morphology, Abnormal motor neuron morphology, Cardio...	ORPHA:52430
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Encephalocele, Meningocele, Aplasia/Hypoplasia of the tibia, Preaxial foot p...	ORPHA:1827
Stromme Syndrome	Hydrocephalus, Stillbirth, Preaxial polydactyly	OMIM:243605
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal thumb morphology, Congestive heart failure, Atrial flutter, Abnormal atrioventricular va...	ORPHA:324410
Developmental And Epileptic Encephalopathy 95	Short 4th metacarpal, Hepatomegaly, Clinodactyly of the 5th finger, Cardiomegaly, Inguinal hernia...	OMIM:618143
Joubert Syndrome 39	Joint contracture of the 5th finger, Occipital encephalocele, Postaxial polydactyly, Hypoplastic ...	OMIM:619562
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod...	ORPHA:158687
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Micromelia, Postaxi...	OMIM:614091
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Absent outer dynein arms, Atrioventricular canal defect, Azoospermia, Lef...	OMIM:618300
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Occipital encephalocele, Coloboma	ORPHA:324416
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Aplasia of the 1st metacarpa...	OMIM:142900
Neurocutaneous Melanocytosis	Syringomyelia, Chorioretinal coloboma, Intracranial hemorrhage, Meningocele	ORPHA:2481
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Broad hallux, Dou...	OMIM:217095
Lateral Meningocele Syndrome	Syringomyelia, Dural ectasia, Patent ductus arteriosus, Meningocele, Hydrocephalus, Inguinal hern...	OMIM:130720
Cloacal Exstrophy	Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Intestinal duplication, Myelo...	ORPHA:93929
Congenital Sialidosis Type 2	Polydactyly, Hepatomegaly, Inguinal hernia, Hydrocephalus, Protruding tongue, Abnormal heart morp...	ORPHA:93400
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Trisomy 1Q	Hydrocephalus, Increased nuchal translucency, Arachnodactyly, Camptodactyly of finger, Cystic hyg...	ORPHA:261344
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Iris coloboma, Palmar pits, Cardiac rhabdomyoma, Hydrocephalus...	OMIM:109400
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pads, Broad thumb, Arachnodactyl...	OMIM:619721
Spondylocostal Dysostosis 4, Autosomal Recessive	Situs inversus totalis, Anal stenosis, Broad neck, Dextrocardia, Spina bifida occulta, Hydrocepha...	OMIM:613686
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Cleft palate, Split hand	ORPHA:1300
Adams-Oliver Syndrome 6	Truncus arteriosus, Esophageal varix, Portal hypertension, Tricuspid regurgitation, Foot oligodac...	OMIM:616589
Orofaciodigital Syndrome Type 4	High, narrow palate, Rectovaginal fistula, Finger syndactyly, Perineal fistula, Postaxial hand po...	ORPHA:2753
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Clinodactyly, Brachydactyly	ORPHA:313781
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Ritscher-Schinzel Syndrome 2	Broad neck, Clinodactyly of the 5th finger, Prominent fingertip pads, High palate, Camptodactyly,...	OMIM:300963
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
D-Bifunctional Protein Deficiency	Hepatomegaly, Hammertoe, High palate, Split hand, Splenomegaly, Talipes equinovarus	OMIM:261515
3P25.3 Microdeletion Syndrome	Atrial septal defect, High, narrow palate, Proximal placement of thumb, Broad thumb, Postaxial po...	ORPHA:435638
Meckel Syndrome 14	Occipital encephalocele, Postaxial hand polydactyly, Bowing of the long bones, Increased nuchal t...	OMIM:619879
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Corneal neovascularization, Aganglionic megacolon, Hydromyelia, Inguinal hernia, Hypertension, Po...	OMIM:308205
Branchiootorenal Syndrome 1	Branchial fistula, Branchial cyst, Congenital hip dislocation	OMIM:113650
Trisomy 20P	Abnormal hip bone morphology, Inguinal hernia, Finger syndactyly, Ectopic anus, Low posterior hai...	ORPHA:261318
Hartsfield Syndrome	Semilobar holoprosencephaly, Alobar holoprosencephaly, Ectrodactyly, Lobar holoprosencephaly, Cle...	OMIM:615465
Houge-Janssens Syndrome 2	Hydrocephalus, Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia	OMIM:616362
Nail-Patella Syndrome	Limited elbow extension, Clinodactyly of the 5th finger, Patellar hypoplasia, Glenoid fossa hypop...	OMIM:161200
Intellectual Developmental Disorder, Autosomal Dominant 23	Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap	OMIM:615761
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Preaxial polydactyly, Postaxial hand polydactyly, Natal tooth, Holoprose...	OMIM:615948
Coach Syndrome 1	Occipital encephalocele, Hepatomegaly, Encephalocele, Coloboma, Hypertension, Postaxial hand poly...	OMIM:216360
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Poikilo...	OMIM:618278
Femoral-Facial Syndrome	Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia...	ORPHA:1988
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl...	ORPHA:57777
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Low posterior hairline, Camptodactyly of to...	ORPHA:261337
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni...	OMIM:304120
9Q21.13 Microdeletion Syndrome	Polydactyly, Syringomyelia, Hip dysplasia	ORPHA:531151
Retinitis Pigmentosa 89	Postaxial polydactyly, Bicuspid aortic valve, Esophageal varix, Hepatosplenomegaly	OMIM:618955
Familial Atrial Myxoma	Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon...	ORPHA:615
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Semilobar holoprosencephaly, Absence of Stensen duct, Inguinal hernia, Rectovaginal fistula, Spli...	OMIM:129900
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Broad neck, Clinodactyly, Transposition of the gr...	OMIM:256520
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Redundant neck skin, Radial deviation of finger, Sandal gap, Aortic valve stenosis, Syndactyly, U...	OMIM:618164
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Colitis	ORPHA:88643
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia	ORPHA:85447
Hypoglossia-Hypodactylia	Aglossia, Adactyly, Split hand, Microglossia	OMIM:103300
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly, Single transverse palmar crease, Prominent fingertip pads, Short palm, Brachyd...	ORPHA:466950
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Transposition of the great arteries, Patent foramen ovale, Coloboma, Short neck, Macroglossia, Cl...	OMIM:616789
Joubert Syndrome 27	Polydactyly	OMIM:617120
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe...	ORPHA:1112
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Dysphagia, Pseudobulbar paralysis	OMIM:606353
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro...	ORPHA:97214
Multiple Osteochondromas	Abnormal femur morphology, Cervical myelopathy, Abnormal lower limb bone morphology, Deformed for...	ORPHA:321
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Branchial anomaly, Increased nuchal translucency, Postaxial polydactyly, Abnormal heart morpholog...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Branchial anomaly, Increased nuchal translucency, Postaxial polydactyly, Abnormal heart morpholog...	ORPHA:352665
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Tethered cord, Dermal sinus tract, Myelome...	OMIM:600145
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Clinodactyly of the 5th finger, Chorioretinal coloboma, Meningocele	ORPHA:2031
Curry-Jones Syndrome	Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, Preaxial hand pol...	ORPHA:1553
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Stillbirth, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot p...	OMIM:119800
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic ste...	OMIM:602782
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Abnormal heart morphology, Short 5th finger, Long toe, Abnormality of the han...	ORPHA:508488
Charcot-Marie-Tooth Disease Type 1E	Hammertoe, Split hand, Hand muscle weakness, Hand muscle atrophy, Hyporeflexia of upper limbs, Jo...	ORPHA:90658
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Epiphyseal stippling, Cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:256550
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Atrial septal defect, Isomerism, Partial anomalous pu...	OMIM:619657
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Syndac...	OMIM:134780
Bor Syndrome	Branchial cyst	ORPHA:107
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Hemochromatosis, Type 1	Congestive heart failure, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Sp...	OMIM:235200
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Meckel diverticulum, Single tra...	OMIM:311900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Anal stenosis, Split hand, Ectrodactyly, Split foot, Cleft palate, Toe s...	OMIM:604292
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndactyly, Brachy...	OMIM:617895
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Hip dislocation, Meningocele	ORPHA:2003
Yunis-Varon Syndrome	Rocker bottom foot, Redundant neck skin, Abnormal finger morphology, Hypertension, Cardiomyopathy...	ORPHA:3472
Joubert Syndrome 22	2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Coloboma	OMIM:615665
Adult Syndrome	Split foot, Toe syndactyly, Split hand	OMIM:103285
Vacterl/Vater Association	Occipital encephalocele, Anencephaly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Preaxi...	ORPHA:887
Fanconi Anemia	Abnormal femur morphology, Meckel diverticulum, Abnormality of the upper limb, Tracheoesophageal ...	ORPHA:84
Frontotemporal Dementia With Motor Neuron Disease	Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Dysphagia, Abnorm...	ORPHA:275872
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Phakomatosis Pigmentokeratotica	Coloboma, Hemiatrophy, Spina bifida, Raynaud phenomenon, Arrhythmia	ORPHA:2874
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio...	OMIM:620135
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly...	OMIM:212140
Rhombencephalosynapsis	Polydactyly, Aganglionic megacolon, Esophageal atresia, Finger syndactyly, Hydrocephalus, Tracheo...	ORPHA:59315
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, High, narrow palate, Dural ectasia, Aortic regurgitation, Cardiomegaly, Inguinal...	ORPHA:91387
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Limi...	ORPHA:268810
3Mc Syndrome 3	Preaxial polydactyly, Clinodactyly, Radioulnar synostosis	OMIM:248340
Acro-Renal-Ocular Syndrome	Sandal gap, Short humerus, Hypoplasia of the ulna, Aganglionic megacolon, Preaxial hand polydacty...	ORPHA:959
Castleman Disease	Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration, Decreased mean c...	ORPHA:160
Refsum Disease, Classic	Congestive heart failure, Cardiomyopathy, Short fourth metatarsal, Arrhythmia, Cardiomegaly	OMIM:266500
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Clubbing, Split hand, Cleft palate, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular se...	OMIM:600460
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, Hydrocephalus, ST segment elevation, Card...	OMIM:261740
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Hammertoe, Cardiomegaly, Hydranencephaly, Hydrocephalus, Patent foramen ovale, Hig...	OMIM:620371
Apert Syndrome	Limited elbow movement, Delayed eruption of teeth, Hydrocephalus, Delayed epiphyseal ossification...	OMIM:101200
Constricting Bands, Congenital	Ectopia cordis, Encephalocele, Omphalocele, Hand polydactyly, Cleft palate, Syndactyly, Bladder e...	OMIM:217100
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology	ORPHA:139578
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Infantile-Onset X-Linked Spinal Muscular Atrophy	Abnormal anterior horn cell morphology, Elbow flexion contracture, High palate, Interphalangeal j...	ORPHA:1145
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Occipital encephalocele, Redundant neck skin, Early ossification of ca...	ORPHA:397715
Diamond-Blackfan Anemia 21	Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Secundum atrial septal defect...	OMIM:620072
Acrocallosal Syndrome	Pulmonary valve defects, Bifid distal phalanx of the thumb, Bifid uvula, Umbilical hernia, Abnorm...	OMIM:200990
Oculodentodigital Dysplasia	Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Abnorma...	ORPHA:2710
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Hepatomegaly, Elevated jugular venous pressure, Hepatocellular carcinom...	ORPHA:465508
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Increased arm span, Thin metacarpal cortices, Slender long bone, Thin metatarsal cortices, High p...	ORPHA:2463
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial...	OMIM:619051
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension	OMIM:619064
Campomelic Dysplasia	Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Short long bone, Tibial bowing, A...	OMIM:114290
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten...	OMIM:614473
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Enlarged kidney, Hepatomegaly, Tapered toe, Antenatal intracerebral hemorrhage, El...	OMIM:608836
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Genu valgum, Postaxial polydactyly, Limb undergrowth, Complete atr...	OMIM:619142
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
Meckel Syndrome, Type 1	Occipital encephalocele, Radial deviation of finger, Anencephaly, Intestinal malrotation, Syndact...	OMIM:249000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia	OMIM:616437
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly, Finger aplasia	OMIM:207770
Waardenburg Syndrome Type 1	Meningocele, Aganglionic megacolon, Cleft palate, Spina bifida	ORPHA:894
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Foot polydactyly	ORPHA:210548
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Pagod Syndrome	Situs inversus totalis, Encephalocele, Meningocele, Spina bifida, Omphalocele, Arrhythmia, Sudden...	ORPHA:991
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in upper limbs, Abnormal lower motor neuron morphology, Amyotrophic late...	OMIM:613954
Oligomeganephronia	Secundum atrial septal defect, Branchial cyst	ORPHA:2260
Vacterl With Hydrocephalus	Hypoplasia of the radius, Aqueductal stenosis, Esophageal atresia, Inguinal hernia, Hydrocephalus...	ORPHA:3412
Chromosome 3Pter-P25 Deletion Syndrome	Postaxial polydactyly, Overlapping toe, Tapered finger	OMIM:613792
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia	OMIM:165590
Orofaciodigital Syndrome I	Polydactyly, Radial deviation of finger, Hamartoma of tongue, Hydrocephalus, Hypertension, Short ...	OMIM:311200
Amish Lethal Microcephaly	Hepatomegaly, Cleft soft palate, Spina bifida	ORPHA:99742
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Spastic Paraplegia 9A, Autosomal Dominant	Carpal bone hypoplasia, Gastroesophageal reflux, Abnormal upper motor neuron morphology, Abnormal...	OMIM:601162
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Myocar...	OMIM:300257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Atrial septal defect, Ventricular septal defect, Postaxial polydactyly	OMIM:603387
Hallermann-Streiff Syndrome	Narrow palate, Abnormality of the hand, High, narrow palate, Iris coloboma, Slender long bone, Hy...	OMIM:234100
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert...	OMIM:180849
Braddock Syndrome	Congenital muscular torticollis, Short neck, Preaxial hand polydactyly	ORPHA:52047
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, Stillbirth, Single ventricle, Epiphyseal stippli...	OMIM:308050
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra...	ORPHA:1677
Bardet-Biedl Syndrome 12	Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:615989
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Diets-Jongmans Syndrome	Inguinal hernia, Heterotaxy, Umbilical hernia, Hip dysplasia, Ventricular septal defect, Duodenal...	OMIM:618846
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Anorectal anomaly, Hypertensive crisis, ...	ORPHA:567
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Abnormality of the hand	OMIM:221770
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo...	ORPHA:1515
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C...	ORPHA:75565
Oculoauriculovertebral Spectrum With Radial Defects	Preaxial hand polydactyly, Atrioventricular canal defect, Triphalangeal thumb, Aplasia/Hypoplasia...	ORPHA:2549
Orofaciodigital Syndrome Type 2	Atrioventricular canal defect, Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the...	ORPHA:2751
Orofaciodigital Syndrome V	Aganglionic megacolon, Sandal gap, Postaxial hand polydactyly, High palate, Ankyloglossia, Postax...	OMIM:174300
Adult Syndrome	Split foot, Toe syndactyly, Finger syndactyly	ORPHA:978
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Redundant neck skin, Sandal gap, Premature ventricular ...	OMIM:300855
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary...	OMIM:620642
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti...	OMIM:620609
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Reduced left ventricular ejection fraction, Gastroesophageal reflux, Necrotizing en...	OMIM:201475
Congenital Disorder Of Glycosylation, Type Iil	Patent ductus arteriosus, Hydrocephalus, Postaxial polydactyly, Hip dysplasia, Atrial septal defe...	OMIM:614576
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Coloboma, Short long bone, Metaphyse...	ORPHA:85167
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the hand, Aganglionic megacolon, Inguinal hernia, Oligodactyly, Ectrodactyly, Abno...	ORPHA:2273
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Gastroesophageal reflux	ORPHA:3137
Hsd10 Disease, Infantile Type	Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Gastrointestinal dysmotility	ORPHA:391428
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Thickened nuchal skin fold	ORPHA:100070
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Acetabular dysplasia, Abnormal ilium morpho...	ORPHA:508533
Mosaic Trisomy 16	Large placenta, Abnormality of the gastrointestinal tract, Patent ductus arteriosus, Meckel diver...	ORPHA:1708
Au-Kline Syndrome	Syringomyelia, Deep palmar crease, Clinodactyly of the 5th finger, Gastroesophageal reflux, Hyper...	OMIM:616580
Mucopolysaccharidosis Type 3	Genu valgum, Abnormal aortic valve morphology, Cardiomegaly, Reduced left ventricular ejection fr...	ORPHA:581
Hydrolethalus Syndrome 1	Stillbirth, Broad neck, Anencephaly, Talipes equinovarus, Upper limb undergrowth, Postaxial hand ...	OMIM:236680
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	ORPHA:42
Lathosterolosis	Hepatomegaly, Meningocele, High palate, Postaxial hand polydactyly, Toe syndactyly, Postaxial foo...	ORPHA:46059
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f...	OMIM:149730
Duane Retraction Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Webbed neck, Spina bifida occulta, Aplasia/Hypopla...	ORPHA:233
Laryngotracheoesophageal Cleft Type 4	Intestinal atresia, Abnormal lower motor neuron morphology, Tracheoesophageal fistula, Abnormal c...	ORPHA:93941
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Inguinal hernia, Bradycardia, High palate, Bowing of the long bones, Pul...	OMIM:614437
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Limited elbow movement, Proximal muscle weakness in upper limbs, Distal upper limb muscle weaknes...	ORPHA:268
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage	ORPHA:99931
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Thickened nuchal skin fold, Cardiomegaly, Short femur, Short tibia, Tali...	OMIM:620306
Amyotrophic Lateral Sclerosis 21	Abnormal upper motor neuron morphology, Hand muscle weakness, Dysphagia, Abnormal lower motor neu...	OMIM:606070
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Abnormal heart morphol...	ORPHA:404440
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Atrioventricular canal defect, Torticollis, Gastroesophageal reflux, Tethered cord, Spina bifida,...	OMIM:619480
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Patent ductus arteriosus, Hydrocephalus, High palate, Congenital hip dislocation,...	OMIM:104350
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect, Postaxial polydactyly	OMIM:219730
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Single transverse palmar crease, Patent foramen ovale, Clinodactyly, Natal tooth, Broad hallux, R...	OMIM:620186
Amyotrophic Lateral Sclerosis 2, Juvenile	Retrocollis, Abnormal upper motor neuron morphology, Hand muscle atrophy, Dysphagia, Abnormal low...	OMIM:205100
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cardiomegaly, Hepatomeg...	ORPHA:137675
Treacher-Collins Syndrome	Branchial fistula, Encephalocele, Patent ductus arteriosus	ORPHA:861
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Meckel Syndrome	Situs inversus totalis, Anencephaly, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Bo...	ORPHA:564
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Broad thumb, Umbilical hernia, Aplasia/Hypoplasia of the 3rd toe, Hy...	OMIM:107480
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect, High palate, Hip dysplasia	OMIM:618798
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ...	OMIM:620066
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Dysphagia	OMIM:607225
Johnson Neuroectodermal Syndrome	Preaxial hand polydactyly, Hand polydactyly, Tetralogy of Fallot	ORPHA:2316
Adnp Syndrome	Polydactyly, Sandal gap, Inguinal hernia, Oral-pharyngeal dysphagia, Single transverse palmar cre...	ORPHA:404448
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Short thumb, Radioulna...	ORPHA:2307
Cree Mental Retardation Syndrome	Rocker bottom foot, Webbed neck, Cleft soft palate, Coloboma, Cutaneous finger syndactyly	OMIM:606851
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Slender finger, Preaxial hand polydactyly, Atrial septal defect, Ven...	OMIM:610536
Marfan Syndrome	Limited elbow movement, Congestive heart failure, Abnormal left ventricular function, Tricuspid v...	ORPHA:558
Lumbar Syndrome	Ectopic anus, Anal atresia, Myelomeningocele, Spina bifida, Bladder exstrophy	ORPHA:83628
Bardet-Biedl Syndrome 1	High, narrow palate, Radial deviation of finger, Aganglionic megacolon, Hypertension, Postaxial h...	OMIM:209900
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Clinodactyly of the 5th finger, Deep palmar crease, Inguinal hernia, Duodenal atresi...	OMIM:247200
Esophageal Atresia	Gastrointestinal carcinoma, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal...	ORPHA:1199
Okamoto Syndrome	Polydactyly, Syringomyelia, Anal stenosis, Redundant neck skin, Abnormal left ventricle morpholog...	ORPHA:2729
Mogs-Cdg	Hepatomegaly, High palate, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial...	ORPHA:79330
Charge Syndrome	Tracheoesophageal fistula, Dysphagia, Umbilical hernia, Bifid femur, Abnormal cardiac septum morp...	ORPHA:138
Mandibulofacial Dysostosis-Microcephaly Syndrome	Preaxial hand polydactyly, Atrial septal defect	ORPHA:79113
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip subluxation, Ingui...	ORPHA:221120
Witteveen-Kolk Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Proximal placement of thumb, Short fo...	OMIM:613406
Familial Aortic Dissection	Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation, Patent ductus arteriosus	ORPHA:229
Cranioectodermal Dysplasia 2	Polydactyly, Hepatomegaly, Rhizomelia, Patent ductus arteriosus, Inguinal hernia, Patent foramen ...	OMIM:613610
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Aplasia of the 1st metacarpal, Complete duplication of thumb phalanx, Abnormal hea...	OMIM:227646
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Orthostatic hypotension	OMIM:263570
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at...	ORPHA:1457
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Talipes equinovarus	OMIM:601389
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Post...	OMIM:263520
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Cardiomegaly, Pulmonary arterial hypertension, Bifid uvula, Cleft palate, Tachycard...	OMIM:614921
Monosomy 9Q22.3	Polydactyly, Palmar pits, Delayed eruption of teeth, Hydrocephalus, Cardiac fibroma, Umbilical he...	ORPHA:77301
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Heart block, Hepatomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardiu...	ORPHA:228308
Neu-Laxova Syndrome	Micromelia, Spina bifida, Bifid uvula, Cleft palate, Large hands, Submucous cleft hard palate	ORPHA:2671
Joubert Syndrome 37	Postaxial polydactyly	OMIM:619185
Loeys-Dietz Syndrome 2	Arachnodactyly, Bifid uvula, Syndactyly, Mitral valve prolapse, Umbilical hernia, Bicuspid aortic...	OMIM:610168
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hy...	ORPHA:308552
Williams Syndrome	Hypertension, Cerebral ischemia, Tracheoesophageal fistula, Pulmonic stenosis, Mitral valve prola...	ORPHA:904
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly	ORPHA:88628
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Left-to-right shunt, Broad thumb, Syndactyly, Splenomegaly, Poly...	OMIM:619534
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Meckel diverticulum, ...	OMIM:312870
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly	OMIM:617713
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Gaucher Disease, Type Iiic	Hepatomegaly, Hydrocephalus, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic va...	OMIM:231005
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Epiphyseal stippling, Stippled calcification in carpal bones, Abnormal pelvic girdle ...	OMIM:302960
Arima Syndrome	Hepatomegaly, Hypertension, Postaxial hand polydactyly, Esophageal varix, Occipital meningocele, ...	OMIM:243910
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Amyotrophic Lateral Sclerosis 4, Juvenile	Pallor of dorsal columns of the spinal cord, Atrophy of the spinal cord, Degeneration of anterior...	OMIM:602433
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio...	ORPHA:980
Aicardi Syndrome	Proximal placement of thumb, Spina bifida, Cleft palate, Optic disc coloboma, Hepatoblastoma, Hia...	OMIM:304050
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, 2-4 toe syndactyly, Brachydactyly	OMIM:614099
Bohring-Opitz Syndrome	Fixed elbow flexion, Bradycardia, Metacarpophalangeal joint contracture, Coloboma, Bilateral wris...	ORPHA:97297
Branchiooculofacial Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Branchial anomaly, Single transverse...	OMIM:113620
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Encephalocele, Mesomelic leg shortening, Syndactyly, Preaxial hand polydacty...	OMIM:603671
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Koolen-De Vries Syndrome Due To A Point Mutation	Dural ectasia, Hydrocephalus, Prominent fingertip pads, Cardiomyopathy, Calcaneovalgus deformity,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Dural ectasia, Hydrocephalus, Prominent fingertip pads, Cardiomyopathy, Calcaneovalgus deformity,...	ORPHA:363958
Charge Syndrome	Absent tibia, Tracheoesophageal fistula, Pulmonic stenosis, Abnormal palmar dermatoglyphics, Dysp...	OMIM:214800
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly	OMIM:615824
Cerebrooculonasal Syndrome	Narrow palate, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, High palate, Postaxial p...	OMIM:605627
Oeis Complex	Rectovaginal fistula, Hydrocephalus, Tethered cord, Myelomeningocele, Congenital hip dislocation,...	OMIM:258040
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Neonatal death	OMIM:253310
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Clinodactyly of the 5th finger, Aortic regurgitation, Acromesomelia, Gastroesophagea...	ORPHA:464306
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Atrial septal defect, Prea...	OMIM:619471
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Abnormal heart morphology, High palate	ORPHA:314655
Choanal Atresia	Polydactyly	ORPHA:137914
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Broad thumb, Pulmonic stenosis, Aortic ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Broad thumb, Pulmonic stenosis, Aortic ...	ORPHA:353277
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction	OMIM:105210
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Hepatosplenomegaly, Cardiomegaly, Macroglossia	OMIM:268800
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Sinus tachycardia, Subarachno...	OMIM:232300
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Wrist flexion contracture, Short humerus, Absent thumb, Syndactyly, A...	OMIM:268300
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Aortic regurgitation, Inguinal hernia, ...	ORPHA:268261
Degcags Syndrome	Low posterior hairline, Pulmonic stenosis, Syndactyly, Polydactyly, Oral-pharyngeal dysphagia, Pa...	OMIM:619488
Helsmoortel-Van Der Aa Syndrome	Polydactyly, High, narrow palate, Genu valgum, Clinodactyly of the 5th finger, Enlarged kidney, S...	OMIM:615873
Meier-Gorlin Syndrome 7	Dislocated radial head, Aplasia/Hypoplasia of the patella, 2-3 toe syndactyly, Clubbing, 2-4 fing...	OMIM:617063
Schinzel-Giedion Syndrome	Aganglionic megacolon, Neural tube defect, Inguinal hernia, Hypoplastic pubic bone, Tibial bowing...	ORPHA:798
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Neonatal death, Hepatosplenomegaly, Splenomegaly, Dysphagia, Cardiomegaly	OMIM:608013
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	OMIM:255120
Tarp Syndrome	Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Postaxial polydactyly, Sh...	ORPHA:2886
Neurofibromatosis, Type I	Aqueductal stenosis, Genu valgum, Hydrocephalus, Hypertension, Spina bifida, Tibial pseudarthrosis	OMIM:162200
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short foot, Postaxial polydactyly, Hip dysplasia, Hip dislocation, Tapered finger, Small hand	OMIM:300968
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Atrial septal defect, High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Ventric...	OMIM:300967
Proteasome-Associated Autoinflammatory Syndrome 1	Congestive heart failure, Hepatomegaly, Flexion contracture of toe, Cardiomegaly, Clubbing of fin...	OMIM:256040
Orofaciodigital Syndrome Type 1	Tarsal synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly,...	ORPHA:2750
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Umbilical hernia, Polydactyly affe...	ORPHA:672
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Spinal cord tumor, Narrow palate, Syringomyelia, Broad distal phalanx of finger, Abnormal proxima...	ORPHA:353281
Loeys-Dietz Syndrome 1	Dural ectasia, Inguinal hernia, Hydrocephalus, Postaxial hand polydactyly, High palate, Camptodac...	OMIM:609192
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Flexion contracture of finger, Meningocele	ORPHA:1010
Alobar Holoprosencephaly	Cyclopia, Neural tube defect, Gastroesophageal reflux, Hydrocephalus, Abnormal gastrointestinal t...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Cyclopia, Neural tube defect, Gastroesophageal reflux, Hydrocephalus, Abnormal gastrointestinal t...	ORPHA:93926
Lobar Holoprosencephaly	Cyclopia, Neural tube defect, Gastroesophageal reflux, Hydrocephalus, Abnormal gastrointestinal t...	ORPHA:93924
Semilobar Holoprosencephaly	Cyclopia, Neural tube defect, Gastroesophageal reflux, Hydrocephalus, Abnormal gastrointestinal t...	ORPHA:220386
Congenital Tracheomalacia	Partial anomalous pulmonary venous return, Esophageal atresia, Gastroesophageal reflux, Pulmonary...	ORPHA:95430
Truncus Arteriosus	Transposition of the great arteries, Aortic regurgitation, Cardiomegaly, Abnormal heart valve mor...	ORPHA:3384
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Fucosidosis	Hepatomegaly, Splenomegaly, Cardiomegaly, Macroglossia, Coxa valga	OMIM:230000
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Distal upper limb muscle weakness, Stiff neck...	ORPHA:79139
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Dislocated radial head, Single transverse palmar crease, Mesomel...	OMIM:619297
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl...	OMIM:617527
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy	OMIM:619259
Craniofacial Microsomia 1	Occipital encephalocele, Genu valgum, Hydrocephalus, Branchial anomaly, Partial duplication of th...	OMIM:164210
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Hepatomegaly, Gastroesophageal reflux, Abnormal mitochondrial shape, Patent foramen ...	ORPHA:17
Abetalipoproteinemia	Congestive heart failure, Steatorrhea, Hepatomegaly, Cardiomegaly, Fat malabsorption, Talipes equ...	ORPHA:14
Machado-Joseph Disease Type 3	Degeneration of anterior horn cells, Spinocerebellar tract degeneration, Abnormal lower motor neu...	ORPHA:276244
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu...	ORPHA:3427
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Coloboma, Retinal coloboma, Long hallux, Large hands, Mitral valve prolapse, Ven...	OMIM:617107
Holoprosencephaly 7	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Bilateral cleft palate, Uni...	OMIM:610828
Legius Syndrome	Polydactyly, Clinodactyly of the 5th finger, Pulmonic stenosis, Paroxysmal atrial tachycardia, Mi...	ORPHA:137605
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, High palate, Umbilical hernia, Patent ductus arteriosus, Cardiomegaly, Ventricular ...	ORPHA:96191
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Left ventricular outflow tract obstruction, Vasculitis, Transient ischemic attack, ...	ORPHA:365
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction	OMIM:208000
X-Linked Cerebral Adrenoleukodystrophy	Abnormal spinal cord morphology, Myelopathy	ORPHA:139396
Fucosidosis	Cardiomegaly, Hepatomegaly	ORPHA:349
Exstrophy-Epispadias Complex	Anal stenosis, Abnormality of the gastrointestinal tract, Inguinal hernia, Hydrocephalus, Anal at...	ORPHA:322
Rabson-Mendenhall Syndrome	Polydactyly, Cardiomyopathy, Furrowed tongue, High palate, Atrial septal defect, Ventricular sept...	ORPHA:769
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Hydrocephalus, Postaxial polydactyly, Broad hallux, Hip dysplasia	ORPHA:457284
Heterotaxy, Visceral, 12, Autosomal	Situs inversus totalis, Partial anomalous pulmonary venous return, Dextrocardia, Patent foramen o...	OMIM:619702
Singleton-Merten Syndrome 1	Congestive heart failure, Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals ...	OMIM:182250
Khan-Khan-Katsanis Syndrome	Postaxial polydactyly, Tethered cord, Clinodactyly	OMIM:618460
Beckwith-Wiedemann Syndrome	Large placenta, Enlarged kidney, Hepatomegaly, Inguinal hernia, Visceromegaly, Hypertrophic cardi...	ORPHA:116
Branchio-Oculo-Facial Syndrome	Preaxial hand polydactyly	ORPHA:1297
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Liver Disease, Severe Congenital	Left atrial enlargement, Protein-losing enteropathy, Hepatomegaly, Inguinal hernia, Chronic gastr...	OMIM:619991
Townes-Brocks Syndrome	Clinodactyly of the 5th finger, Triphalangeal thumb, Absent toe, Ulnar deviation of finger, Broad...	ORPHA:857
Maternal Uniparental Disomy Of Chromosome 2	Preaxial hand polydactyly, Clinodactyly of the 5th finger	ORPHA:96179
Acute Disseminated Encephalomyelitis	Abnormal spinal cord morphology, Myelitis	ORPHA:83597
Knobloch Syndrome 1	Occipital encephalocele, Spina bifida occulta, Pyloric stenosis, Occipital meningocele, Patent du...	OMIM:267750
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle	OMIM:600901
Neurocardiofaciodigital Syndrome	Polydactyly, Double inlet left ventricle, High palate, Tetralogy of Fallot, Syndactyly, Patent du...	OMIM:619869
Sickle Cell Disease	Cardiomegaly, Hypertension, Splenomegaly, Hepatomegaly	OMIM:603903
Holoprosencephaly 9	Alobar holoprosencephaly, Hydrocephalus, Bilateral cleft palate, Short hard palate, Postaxial han...	OMIM:610829
Adrenomyeloneuropathy	Dorsal column degeneration, Abnormal spinal cord morphology, Atrophy of the spinal cord	ORPHA:139399
Fanconi Anemia, Complementation Group A	Prolonged G2 phase of cell cycle	OMIM:227650
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Atrioventricular canal defect, Aplasia of the epiglottis, Hepatomegaly, Short clavicles, Short lo...	OMIM:617088
Fanconi Anemia, Complementation Group C	Prolonged G2 phase of cell cycle	OMIM:227645
Alstrom Syndrome	Polydactyly, Congestive heart failure, Hepatomegaly, Hypertension, Dilated cardiomyopathy	OMIM:203800
Mullegama-Klein-Martinez Syndrome	Polydactyly, Clinodactyly of the 5th finger, Submucous cleft of soft and hard palate, Bifid uvula...	OMIM:301022
Microphthalmia, Syndromic 6	Polydactyly, Abnormality of the hand, Clinodactyly of the 5th finger, Finger syndactyly, Single t...	OMIM:607932
Faciocardiomelic Syndrome	Polydactyly, Slender long bone, Hypoplastic pelvis	OMIM:612731
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomyopathy, Omphalocele, Hepatoblastoma, Pancreatic hyperplasi...	OMIM:130650
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Hepatomegaly, Parotitis, Hepatosplenomegaly, Splenomegaly, Cardiomegaly,...	OMIM:620376
Generalized Arterial Calcification Of Infancy	Stippled calcification of the elbow, Left ventricular systolic dysfunction, Abnormal calcificatio...	ORPHA:51608
Aicardi-Goutières Syndrome	Cardiomegaly, Hepatosplenomegaly, Raynaud phenomenon, Hypertrophic cardiomyopathy	ORPHA:51
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Superficial Siderosis	Abnormal spinal cord morphology, Atrophy of the spinal cord	ORPHA:247245
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Short foot, Slender finger, Congenital hip dislocation, Postaxial polydactyly, Hip dysplasia, Ove...	ORPHA:480880
Tetrasomy 9P	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hydrocephalus, Abnorm...	ORPHA:3310
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Hypotension, Median cleft palate, Abnormal digit morphology, Holoprosencephaly	ORPHA:95494
Bardet-Biedl Syndrome	Finger syndactyly, Cardiomyopathy, Postaxial polydactyly, Abnormal heart morphology, Syndactyly, ...	ORPHA:110
Amoebiasis Due To Free-Living Amoebae	Abnormal spinal cord morphology	ORPHA:68
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal metaphysis morphology, Abnormal pelvis bone ossification, Postaxial hand polydactyly, Mi...	ORPHA:93271
Primary Sjögren Syndrome	Abnormal spinal cord morphology	ORPHA:289390
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Fibular hypoplasia, Radial deviation of finger, Rhizomelia, High, narrow p...	OMIM:218330

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 Ift122

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 Ift122.

No publications found that use IMPC mice or data for Ift122.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ift122^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ift122^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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