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Gene: Kynu MGI:1918039

Gene Summary

Name:

kynureninase

Synonyms:

4432411A05Rik, L-kynurenine hydrolase

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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	System	Allele	Zyg	Sex	Life Stage	P Value
increased circulating bilirubin level		Kynu^em1(IMPC)J	HOM		Early adult	5.82×10^-07
decreased exploration in new environment		Kynu^em1(IMPC)J	HOM		Early adult	5.45×10^-09

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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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Kynu 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 Kynu (3 diseases)
Human diseases predicted to be associated with Kynu (1130 diseases)

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

Disease	Matching phenotypes	Source
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Talipes, Unilateral renal agenesis, Chronic kidney disease, Hemivertebrae, Renal hypo...	OMIM:617661
Hydroxykynureninuria	Abnormal circulating tryptophan concentration	ORPHA:79155
Hydroxykynureninuria	Aminoaciduria	OMIM:236800

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

Disease	Matching phenotypes	Source
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Abnormal cardiac sept...	ORPHA:294975
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Arthrogryposis, Distal, Type 1C	Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ...	OMIM:619110
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali...	OMIM:618435
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb	OMIM:613681
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Crigler-Najjar Syndrome Type 1	Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Brachydactyly Type A4	Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte...	ORPHA:93394
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia	OMIM:613618
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Flattened epiphysis, Cl...	OMIM:222600
Arthrogryposis, Distal, Type 2B3	Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Scoliosis, Narrow mouth, Overlap...	OMIM:618436
Aase-Smith Syndrome	Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abn...	ORPHA:916
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Abnormality of the philt...	ORPHA:2935
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Talipes, Cleft palate, High palate, Scoliosis, Clinod...	ORPHA:376
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Malaria	Cognitive impairment, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte...	OMIM:256050
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Abnor...	ORPHA:3104
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Pseudodiastrophic Dysplasia	Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equinovarus, Scoliosis	ORPHA:85174
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Arthrogryposis, Distal, Type 7	Metatarsus adductus, Deep philtrum, Hip dislocation, Cutaneous syndactyly of toes, Hammertoe, Tal...	OMIM:158300
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ...	ORPHA:3268
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis	OMIM:620009
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Arthrogryposis, Distal, Type 1B	Foot joint contracture, Rocker bottom foot, Talipes equinovarus, Camptodactyly, Joint contracture...	OMIM:614335
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:620010
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec...	OMIM:108721
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Hypoplastic il...	OMIM:613330
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Holzgreve Syndrome	Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic left heart	OMIM:236110
Sprengel Deformity	Shoulder muscle hypoplasia, Short neck, Cleft palate, Abnormal shoulder morphology, Abnormality o...	ORPHA:3181
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atres...	OMIM:618845
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect...	OMIM:113000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Pes planus, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion con...	OMIM:600175
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Distal upper limb muscle weakness, Tal...	OMIM:619216
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication, Sacral mening...	OMIM:223200
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication	Hip dysplasia, Talipes equinovarus	ORPHA:238578
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Pos...	OMIM:614815
Moderate Multiminicore Disease With Hand Involvement	Recurrent patellar dislocation, Intrinsic hand muscle atrophy, Knee dislocation, Distal upper lim...	ORPHA:178145
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Upper limb amyotrophy, Talipes equinovarus, Scoliosis, Pes cavus	OMIM:617087
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi...	ORPHA:85172
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy...	OMIM:225280
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Mitral valve prolapse, S...	OMIM:211960
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis	OMIM:300434
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis, Abnormality of amino acid metabolism	ORPHA:214
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous...	OMIM:600384
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Kyphoscoliosis, Short neck, Whistling appearance, Narrow mouth, Elb...	OMIM:277720
Hyperekplexia 4	Kyphoscoliosis, High palate, Talipes equinovarus, Camptodactyly, Umbilical hernia, Adducted thumb	OMIM:618011
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate	OMIM:172880
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Cleft palate, ...	OMIM:618469
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, H...	ORPHA:93307
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Camptodactyly Syndrome, Guadalajara Type 2	Camptodactyly of finger, Short 3rd toe, Cuboid-shaped vertebral bodies, Hip dislocation, Patellar...	ORPHA:1326
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Charcot-Marie-Tooth Disease, Type 4H	Small hypothenar eminence, Small thenar eminence, Talipes equinovarus, Scoliosis, Distal lower li...	OMIM:609311
Erythema Of Acral Regions	Talipes equinovarus, Abnormality of the dentition	OMIM:227000
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa...	OMIM:251450
Spastic Paraplegia 33, Autosomal Dominant	Ankle clonus, Talipes equinovarus	OMIM:610244
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutan...	DECIPHER:46
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Talipes equinovarus	ORPHA:85338
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Pes planus, Hyperlordosis, Kyphosis, Achilles tendon contractu...	OMIM:615290
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr...	ORPHA:1856
Ventriculomegaly And Arthrogryposis	Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus	OMIM:619501
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac...	OMIM:610140
Arthrogryposis, Distal, Type 2E	Joint contracture of the hand, Foot joint contracture, Talipes equinovarus, Narrow mouth	OMIM:121070
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Kyphosis, Talipes equinovarus	ORPHA:85288
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplas...	OMIM:264180
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Cleft upper lip, Pericardial effusion, Short neck, Cleft ...	OMIM:613885
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Rocker bottom foot, Cleft palate	OMIM:616570
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Catel-Manzke Syndrome	Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2n...	ORPHA:1388
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Classic Homocystinuria	Arachnodactyly, Dental crowding, Kyphosis, Esophageal varix, Genu valgum, High palate, Scoliosis,...	ORPHA:394
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Masa Syndrome	Hyperlordosis, Kyphosis, Talipes equinovarus, Pes cavus, Adducted thumb	OMIM:303350
Weaver Syndrome	Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Deep philtrum, Large...	ORPHA:3447
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Abnormal sacrum morphology, Long penis, Coxa vara, Cleft p...	ORPHA:1988
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Cl...	OMIM:619980
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Camptodactyly of toe, Cardiomyo...	OMIM:300280
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Kyphoscoliosis, Postaxial hand polydactyly, Preaxi...	ORPHA:65759
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Pes planus, Arachnodactyly, Cleft lip, Cleft palate, Large hands, Thoracic kyphosis	OMIM:300263
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ve...	ORPHA:2631
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Upper limb amyotrophy, K...	ORPHA:496689
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Triangular mout...	ORPHA:166024
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Arthrogryposis, Distal, Type 1A	Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro...	OMIM:108120
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C...	OMIM:601680
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Nephrolith...	ORPHA:1837
Microphthalmia With Limb Anomalies	Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camp...	OMIM:206920
Kury-Isidor Syndrome	Finger syndactyly, Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Rocker b...	OMIM:619762
Fructosuria, Essential	Impairment of fructose metabolism	OMIM:229800
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Aspartylglucosaminuria	Pes planus, Aspartylglucosaminuria, Abnormal morphology of ulna, Abnormality of the dentition, Ca...	ORPHA:93
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Talipes equinovarus, Scoliosis, Hyperlordosis	OMIM:611067
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Femoral retroversion, Knee flexion contracture, Talipes equ...	OMIM:616531
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Talipes equinovarus, Upper limb amyotrophy	ORPHA:99940
Bardet-Biedl Syndrome 5	Syndactyly, Micropenis, Polydactyly, Brachydactyly	OMIM:615983
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Acropectorovertebral Dysplasia	Finger syndactyly, Tarsal synostosis, Spina bifida, Camptodactyly of finger, High, narrow palate,...	ORPHA:957
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preax...	ORPHA:3098
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Short neck, Kyphosis, Hip dysplasia, Areflex...	OMIM:611890
Charlie M Syndrome	Finger syndactyly, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilion border, Shor...	ORPHA:1406
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Moebius Syndrome	Syndactyly, Brachydactyly, Pes planus, Abnormality of the dentition, Short neck, Split hand, Micr...	OMIM:157900
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Ectopic kidn...	OMIM:212780
Lambert Syndrome	Wide mouth, Hypospadias, Talipes equinovarus	OMIM:245550
Tyrosinemia Type 2	Palmoplantar keratoderma, Abnormality of amino acid metabolism	ORPHA:28378
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Toe clinodactyly, Dental crowding, Arachnodactyly, Cleft palate, Oligodonti...	ORPHA:251019
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Talipes equinovarus, Peroneal muscle atrophy	OMIM:181400
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Deep p...	OMIM:255800
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le...	OMIM:249710
1Q21.1 Microduplication Syndrome	Hypospadias, Hip dislocation, Hip dysplasia, Talipes equinovarus, Tetralogy of Fallot	ORPHA:250994
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Areflexia of upper limbs, Areflexia of lower limbs, Talipes equinovarus, Scoliosis	OMIM:616155
Arthrogryposis, Distal, Type 4	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformity, Kyphosis...	OMIM:609128
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Split foot, Cleft palate	OMIM:183700
Prieto Syndrome	Coxa valga, Abnormality of the dentition, Patellar subluxation, Talipes equinovarus, Radial devia...	OMIM:309610
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh...	OMIM:300244
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Cleft palate, High palate, Talipes equinovarus, Tongue fasciculations, S...	OMIM:614399
Congenital Myopathy 24	Scapular winging, Cardiomyopathy, High palate, Talipes equinovarus, Pes cavus	OMIM:617336
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Pes planus, Sacral dimple, Single transverse palmar crease, Short neck,...	OMIM:613544
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Short neck, Limited knee flex...	OMIM:615065
Charcot-Marie-Tooth Disease, Type 4B1	Talipes equinovarus, Scoliosis	OMIM:601382
Bruck Syndrome 1	Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract...	OMIM:259450
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:223800
Meckel Syndrome, Type 9	Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Microtriplication 11Q24.1	Short neck, Metatarsus adductus, Small hand, Cleft palate, Irregularly spaced teeth, Genu valgum,...	ORPHA:289522
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of...	ORPHA:370010
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Kyphoscoliosis, Oligosacchariduria, Macroglossia, Cam...	OMIM:616354
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Abnormal cardiac septum morphology, Short middle phalanx of finger, Talipes equinova...	OMIM:612626
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis	OMIM:616756
Roussy-Lévy Syndrome	Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu valgum, Talipes equinovarus, Scoliosis, Urina...	ORPHA:3115
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid ...	OMIM:184250
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Congenital knee dislocation, Bilateral talipes equinovarus, Scoliosis, Long philtrum, Hand clench...	ORPHA:319332
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Spastic Paraplegia 64, Autosomal Recessive	Talipes equinovarus	OMIM:615683
Contractural Arachnodactyly, Congenital	Bicuspid aortic valve, Short neck, Knee flexion contracture, High palate, Atrial septal defect, W...	OMIM:121050
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Knee dislocation, Irregular vertebral endplates, High palate, Amelogenesis imperfecta, Hyperlordo...	OMIM:618363
Maxillonasal Dysplasia	Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Vertebral clefting, Cleft pala...	ORPHA:1248
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H...	OMIM:613091
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Talipes equinovarus	OMIM:208100
Myopathic Ehlers-Danlos Syndrome	Pes planus, Foot joint contracture, Shoulder flexion contracture, Ankle flexion contracture, Tape...	ORPHA:536516
Holt-Oram Syndrome	Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm...	OMIM:142900
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Orofacial cleft, Short palm, Clinod...	ORPHA:915
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Hypoplasia of...	ORPHA:88630
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Abnormal form of the vertebral bod...	ORPHA:2839
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Short neck, Long fingers, Bullet-shaped distal phalanx o...	ORPHA:1617
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Short neck, Glossoptosis, Vertebral segmenta...	OMIM:611209
Charcot-Marie-Tooth Disease, Type 4B2	Kyphoscoliosis, Split hand, Hammertoe, Talipes equinovarus, Ulnar claw, Pes cavus	OMIM:604563
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short...	OMIM:600325
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Dilated cardiomyopathy, Calf muscle hypertrophy, Macroglossia, Talipes equinovarus, Triangular to...	OMIM:616827
Congenital Disorder Of Glycosylation, Type Iih	Finger clinodactyly, Type II transferrin isoform profile, Talipes equinovarus, Clinodactyly of th...	OMIM:611182
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D...	OMIM:617201
Mehmo Syndrome	Hypoplasia of penis, Tapered finger, Downturned corners of mouth, Thick vermilion border, Talipes...	ORPHA:85282
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Split hand, Talipes equinovarus, Kyphoscoliosis	OMIM:607831
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Sma...	OMIM:239800
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Wide mo...	ORPHA:1825
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Arachnodactyly, Narrow mouth, Mitral valve prolapse, High palate, Bilateral tali...	OMIM:615539
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Renal cyst, Polydactyly, Brachydactyly	OMIM:615982
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	Movement abnormality of the tongue, Abnormal finger morphology, Bilateral talipes equinovarus	ORPHA:2560
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal foot morphology, Preaxial polydactyly, ...	ORPHA:64754
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radi...	OMIM:300337
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Hyperlordosis, Long fingers, ...	ORPHA:169186
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Pes planus, Kyphoscoliosis, Tapered finger, Carious teeth, Narrow mouth, Short neck, ...	OMIM:272430
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Short phalanx of finger, Broad metacarpals, Hypoplasti...	ORPHA:56304
Charcot-Marie-Tooth Disease Type 4A	Neuropathic spinal arthropathy, Limited interphalangeal movement, Hand muscle weakness, Limited w...	ORPHA:99948
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Tapered finger, Pyloric stenosis, Nephrolithiasis, Vesicoureteral reflux, Hip dyspla...	OMIM:617219
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Thick lower lip vermilio...	OMIM:619451
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Coxa vara, Irregula...	OMIM:616716
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,...	ORPHA:261272
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Abnormal glycosylation	OMIM:615596
Thrombocytopenia-Absent Radius Syndrome	Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused cervical vertebr...	ORPHA:3320
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Postaxial polydactyly, Kyphoscoliosis, Cleft palate	OMIM:612913
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Microphthalmia With Limb Anomalies	Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pala...	ORPHA:1106
Spastic Paraplegia 47, Autosomal Recessive	Pes planus, Genu recurvatum, Wide mouth, High palate, Short philtrum, Talipes equinovarus, Acetab...	OMIM:614066
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Proximal placement of thumb, Short hallux, Abnormality of t...	ORPHA:90650
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Short neck, Vesicoureteral reflux, Cleft...	OMIM:244600
Ehlers-Danlos Syndrome, Classic Type, 2	Congenital hip dislocation, Talipes equinovarus	OMIM:130010
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D...	OMIM:605282
Monosomy 5P	Finger syndactyly, Short neck, Small hand, High palate, Scoliosis	ORPHA:281
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia	OMIM:300484
Freeman-Sheldon Syndrome	Camptodactyly of finger, Abnormality of the dentition, Narrow mouth, Ulnar deviation of finger, T...	ORPHA:2053
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb...	ORPHA:2633
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Juberg-Hayward Syndrome	Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A...	ORPHA:2319
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly...	OMIM:236500
Prune Belly Syndrome	Multicystic kidney dysplasia, Congenital hip dislocation, Ventricular septal defect, Intestinal m...	ORPHA:2970
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal defect, Overlapping toe,...	OMIM:618142
Fructose And Galactose Intolerance	Fructose intolerance, Galactose intolerance	OMIM:229500
Spastic Paraplegia 45, Autosomal Recessive	Talipes equinovarus	OMIM:613162
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ...	ORPHA:1836
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Bilateral talipes equinovarus, Talipes equinovarus, Scoliosis, Flexion ...	OMIM:618484
Marden-Walker Syndrome	Arachnodactyly, Dextrocardia, Hypospadias, Short neck, High, narrow palate, Pyloric stenosis, Kyp...	OMIM:248700
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe, Limited elbo...	OMIM:614078
Aase-Smith Syndrome I	Ventricular septal defect, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Bile Acid Synthesis Defect, Congenital, 5	Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia	OMIM:616278
Cousin Syndrome	Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, ...	OMIM:260660
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Urethral obstruction, Talip...	OMIM:601389
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, High palate...	OMIM:201170
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Hypospadias, Thoracolumbar scoliosis, Metatarsus adductus, High,...	ORPHA:436003
Holt-Oram Syndrome	Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o...	ORPHA:392
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Atelosteogenesis Type I	Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a...	ORPHA:1190
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c...	OMIM:617468
Congenital Myopathy 20	Scapular winging, Ulnar deviation of the hand, Toe joint contracture, Hip dislocation, High palat...	OMIM:620310
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, High palate, Talipes equinovarus, Short palm, Clinodactyly	ORPHA:85279
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Hyperextensibility of the finger joints, Toe syndactyly, Ventricular se...	ORPHA:505237
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Short neck, Tibial bowing, Knee dislocation, Shoulder dislocation, Irregular ver...	OMIM:143095
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Hammertoe, Talipes equinovarus, Scoliosis, Ulnar claw, Pes cavus	OMIM:608340
Perrault Syndrome 1	Pes cavus, High palate, Talipes equinovarus, Scoliosis	OMIM:233400
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef...	OMIM:620269
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligod...	OMIM:602418
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, Chondroitin s...	OMIM:253010
Mohr Syndrome	Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ...	OMIM:252100
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hypertrophic cardiomyopathy, Decreased circulating vitamin E concentration, Esophageal varix, Abn...	ORPHA:309854
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Renal cyst, Vertebral segmentation defect, Clinodactyly of the 5th finger,...	OMIM:272460
Nail-Patella Syndrome	Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Iliac horns, Clinodacty...	OMIM:161200
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Myopathy, Centronuclear, 2	Scapular winging, Hyperlordosis, Kyphosis, High palate, Talipes equinovarus, Scoliosis, Pes cavus	OMIM:255200
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft pa...	ORPHA:971
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Bilateral talipes equinovarus	OMIM:616486
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Abnorm...	ORPHA:2712
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea...	OMIM:272950
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Nail-Patella Syndrome	Back pain, Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Talipes cal...	ORPHA:2614
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Long fingers, High palate, Talipes equinovarus, Clinodactyly, Joint contracture ...	OMIM:601110
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Unilateral renal agenesis, 2-3 toe syndactyly, High palate, Short phil...	ORPHA:3306
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Cleft pal...	ORPHA:2635
Kbg Syndrome	Thin upper lip vermilion, Vertebral fusion, Macrodontia, Single transverse palmar crease, Short n...	ORPHA:2332
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Coxa valga, Finger clinodactyly, Patellar subluxation, Bilateral tal...	ORPHA:2958
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Abnormally ossified...	ORPHA:1512
Intellectual Developmental Disorder, Autosomal Recessive 61	Tapered finger, Conical tooth, Long fingers, High palate, Talipes equinovarus, Scoliosis, Promine...	OMIM:617773
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy, Metatarsus adductus, Hyperlo...	OMIM:181405
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Palmoplantar...	ORPHA:2251
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly...	OMIM:614091
Nescav Syndrome	Talipes equinovarus	OMIM:614255
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, ...	OMIM:217100
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Sandal gap, Clef...	OMIM:612530
Charcot-Marie-Tooth Disease Type 4G	Abnormality of the hand, Abnormal foot morphology, Upper limb amyotrophy, Distal upper limb muscl...	ORPHA:99953
Diaphanospondylodysostosis	Short neck, Myelomeningocele, Cleft palate, Narrow pelvis bone, Multiple renal cysts, Absent or m...	ORPHA:66637
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal...	ORPHA:3429
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Widely-spaced maxillary central incisors, Oligodontia, Partial duplicat...	ORPHA:363417
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Syndactyly, Cardiomegaly, Palmoplantar keratoderma, Enamel hypoplasia	OMIM:613576
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Hemivertebrae, Hypop...	OMIM:173800
Cystathioninuria	Nephrolithiasis, Cystathioninuria, Talipes equinovarus	ORPHA:212
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Short neck, Clinodactyly, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of...	OMIM:616789
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Overlapping toe, Down-sloping...	OMIM:617452
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephalocel...	OMIM:108720
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Short neck, Tibial bowing, High palate, Short philtrum, Clinodactyly of the 5th ...	ORPHA:251028
Galloway-Mowat Syndrome 7	Hallux valgus, Diffuse mesangial sclerosis, Ventricular septal defect, Single transverse palmar c...	OMIM:618348
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Hypospadias, Hemivertebrae, Double outlet right ventricle,...	OMIM:220210
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar...	OMIM:618291
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Cleft palate, Evert...	OMIM:619736
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocat...	OMIM:615777
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Flat capi...	OMIM:147891
Wieacker-Wolff Syndrome	Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Hip dislocation, Camptodactyly,...	OMIM:314580
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi...	ORPHA:2476
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Thoracic scoliosis, Lumbar scoliosis, Talipes equinovarus	OMIM:616171
Facial Clefting, Oblique, 1	Deep palmar crease, Talipes calcaneovalgus, Cleft palate, Cleft upper lip	OMIM:600251
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Joubert Syndrome 24	Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus	OMIM:616654
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Short neck, An...	ORPHA:1865
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ectopic kidney, Abnormal iliac wing morphology, Abnorm...	ORPHA:3027
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Tented upper lip vermilion, Talipes equinovarus, Long philtrum	OMIM:619972
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Broad hallux, Sa...	OMIM:600987
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Radial deviation of the hand, Rocker bottom foot, Urinary incontinence, Short ne...	OMIM:301041
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Aplasia of the pectoralis major muscle, ...	ORPHA:1358
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange...	ORPHA:710
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Atrial septal defect, Spina bifida occulta...	OMIM:150250
Central Core Disease	Pes planus, Congenital hip dislocation, Kyphoscoliosis, Mitral valve prolapse, Talipes equinovaru...	ORPHA:597
Atelosteogenesis Type Iii	Short tubular bones of the hand, Knee dislocation, High palate, Short tibia, Vertebral hypoplasia...	ORPHA:56305
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Prote...	OMIM:235510
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Abnormal pelvis bone ...	ORPHA:166119
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Narrow...	OMIM:617022
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Fl...	OMIM:602471
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Carious teeth, Talon cusp, Dental malocclusion,...	OMIM:613684
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ...	ORPHA:1788
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Narrow palm, Small hand, Abnormal heart morphology, Scolios...	ORPHA:1445
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Neuropathic spinal arthropathy, Dental crowding, Kyphoscoliosis, Deep philtrum, Oligosacchariduri...	ORPHA:397709
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Czeizel-Losonci Syndrome	Hitchhiker thumb, Dextrocardia, Spina bifida, Single transverse palmar crease, Thoracolumbar scol...	ORPHA:2437
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand muscle weakness, Split ha...	ORPHA:101097
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Single transverse pa...	OMIM:614701
Arthrogryposis, Distal, Type 2A	Dental crowding, Short neck, Knee flexion contracture, High palate, Spina bifida occulta, Wrist f...	OMIM:193700
Eem Syndrome	Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely sp...	ORPHA:1897
Pontocerebellar Hypoplasia, Type 12	Talipes equinovarus, Overlapping fingers, Rocker bottom foot	OMIM:618266
Split-Hand/Foot Malformation 3	Narrow mouth, Split hand, Renal hypoplasia, Cleft palate, High palate, Camptodactyly	OMIM:246560
Martsolf Syndrome 1	Thoracic scoliosis, Osteopathia striata, High palate, Short philtrum, Finger joint hypermobility,...	OMIM:212720
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac...	OMIM:619148
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Short n...	ORPHA:2994
Arthrogryposis, Distal, Type 5	Arachnodactyly, Decreased palmar creases, Limited wrist extension, Kyphosis, Absent phalangeal cr...	OMIM:108145
Lethal Congenital Contracture Syndrome 11	Flexion contracture of finger, Elbow flexion contracture, Camptodactyly, Bilateral talipes equino...	OMIM:617194
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Hip contracture, Pursed lips, Short neck, Metatarsus adductus, Calcaneovalgus deformity, Elbow fl...	OMIM:616266
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Irritability, Hyperbilirubinemia	OMIM:619685
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Pes planus, Overriding aorta, Bicuspid aortic valve, Ventricular septal...	ORPHA:477817
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossi...	OMIM:271640
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Arachnodactyly, Proteinuria, Minimal chan...	OMIM:616730
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo...	OMIM:609945
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Short neck, Abnormal sacrum morphology, Cleft palate, Ab...	ORPHA:2345
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Bilateral t...	OMIM:601356
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Short neck, Hemivertebrae, Finger clinodactyly, High palate, End...	ORPHA:99776
Larsen-Like Syndrome	Kyphoscoliosis, Dental malocclusion, Cleft palate, Radial deviation of the 4th finger, Talipes eq...	OMIM:608545
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Talipes cavus equinovarus, Dilated cardiomyopathy, Abnormality of the ca...	ORPHA:59135
6P22 Microdeletion Syndrome	Finger syndactyly, Short neck, Clinodactyly, Hydronephrosis, Abnormal palate morphology	ORPHA:251046
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Arachnodactyly, Short philtrum, Talipes equinovarus, Scoliosis, Campto...	OMIM:301039
Spastic Paraplegia 86, Autosomal Recessive	Talipes equinovalgus, Bilateral talipes equinovarus, Scoliosis	OMIM:619735
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Ventricular septal defect, Short neck...	OMIM:615583
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Abnormality of amino acid metabolism	ORPHA:220295
Slc35A2-Cdg	Abnormal glycosylation, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus ...	ORPHA:356961
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cleft palate, Ulnar deviation of fin...	ORPHA:921
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,...	ORPHA:1517
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Talipes, Unilateral renal agenesis, Chronic kidney disease, Hemivertebrae, Renal hypo...	OMIM:617661
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypopl...	ORPHA:94066
Chromosome 18Q Deletion Syndrome	Proximal placement of thumb, Short neck, Downturned corners of mouth, Short philtrum, Atrial sept...	OMIM:601808
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ...	OMIM:617821
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Talipes equinovarus	OMIM:613710
Mucopolysaccharidosis, Type Vii	Short neck, Widely spaced teeth, Narrow greater sciatic notch, Anterior beaking of lumbar vertebr...	OMIM:253220
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Thin upper lip vermilion, Pes planus, Arachnodactyly, Sandal gap, Hip dysplasia, High palate, Tal...	OMIM:617146
Myopathy, Myofibrillar, 7	Tongue atrophy, Lumbar hyperlordosis, Shoulder flexion contracture, Urinary incontinence, Spinal ...	OMIM:617114
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Broad ha...	OMIM:300963
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Hammertoe, Talipes equinovarus, Tongue fasciculations, Scoliosis, Pes cavus	OMIM:601596
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Multiple Pterygium Syndrome, Escobar Variant	Short neck, Talipes calcaneovalgus, Knee flexion contracture, Downturned corners of mouth, High p...	OMIM:265000
Filippi Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact...	OMIM:272440
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Narrow mouth, Downturned corners of mouth, Wide mouth, Short philtrum, Talipes equinovarus, Long ...	OMIM:617333
Spastic Paraplegia 55, Autosomal Recessive	Talipes equinovarus	OMIM:615035
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Ovoid vertebral bodies, Coxa valga, Short neck, Abnormality of the elbow, Cleft palate, Flat acet...	ORPHA:163649
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Short neck, Knee dislocation, Shoulder dislocation, Atrial s...	OMIM:245600
3C Syndrome	Hypoplasia of penis, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Abnormal tr...	ORPHA:7
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac...	OMIM:217085
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger,...	ORPHA:2311
Achondrogenesis Type 1B	Micromelia, Short neck, Short foot, Talipes equinovarus, Long philtrum, Umbilical hernia	ORPHA:93298
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Knee flexion contracture, In...	OMIM:305620
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P...	OMIM:175700
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Short palm,...	OMIM:305400
Catel-Manzke Syndrome	Single transverse palmar crease, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th f...	OMIM:616145
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Cleft palate...	OMIM:258860
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t...	ORPHA:1515
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypoplastic ilia, Flared metaphys...	OMIM:615349
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, High, narrow palate, 2-3 toe cutaneous syndactyly, Nar...	OMIM:600920
Developmental And Epileptic Encephalopathy 91	Talipes equinovarus, Thick vermilion border, Short philtrum, Single transverse palmar crease	OMIM:617711
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Dihydropyrimidinase Deficiency	Uraciluria, Short phalanx of finger, Talipes equinovarus, Anal atresia	OMIM:222748
Joint Laxity, Short Stature, And Myopia	Umbilical hernia, Cervical kyphosis, Talipes equinovarus, Kyphoscoliosis	OMIM:617662
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Renal hypoplasia, Abnormal heart morphology, Abnormality of the v...	OMIM:276950
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Scoliosis, Talipes equinovarus, Narrow palate	OMIM:617481
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Femoral bowing, Abnormal shoulder morphology, ...	OMIM:274000
Cardiospondylocarpofacial Syndrome	Brachydactyly, High, narrow palate, Abnormal form of the vertebral bodies, Mitral valve prolapse,...	ORPHA:3238
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Pes planus, Exaggerated cupid's bow, Hypospadias, Tapered finger, Denta...	OMIM:619293
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Rocker bottom foot, Hypospadias, Coxa valga, Talipes equinovalgus, Pos...	OMIM:301056
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Short neck, Lum...	OMIM:608022
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Short neck, Orofacial cleft, Downturned corners ...	ORPHA:1507
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the tong...	ORPHA:570
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, S...	OMIM:214300
Giant Axonal Neuropathy	Abnormal hand morphology, Genu valgum, Talipes equinovarus, Scoliosis, Pes cavus, Abnormality of ...	ORPHA:643
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Arachnodactyly, Short neck, Calcaneovalgus deformity, Adducted thumb, Camptodactyly,...	ORPHA:562528
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Dental crowding, Single transverse palmar crease, Long p...	OMIM:309583
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Atrial septal defect, Spina bif...	ORPHA:2475
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, High, narrow palate, Deep philtrum, Knee flexion contracture, Downtu...	ORPHA:435638
Summitt Syndrome	Syndactyly	OMIM:272350
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Tru...	OMIM:616589
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Bruck Syndrome	Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis	ORPHA:2771
Dystonia, Dopa-Responsive	Pes cavus, Talipes equinovarus, Scoliosis	OMIM:128230
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T...	ORPHA:1307
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope...	OMIM:200990
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
20Q13.33 Microdeletion Syndrome	Hallux valgus, Pes planus, Sacral dimple, Hypospadias, Tapered finger, Abnormal cardiac ventricle...	ORPHA:261311
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hemivertebrae, Widely-spaced maxillary central incisors, Micropenis, Hypospadias, Tapered finger,...	OMIM:301040
Noonan Syndrome 13	Atrial septal defect, Pes planus, Overlapping toe, Tapered finger, Metatarsus adductus, Lower lim...	OMIM:619087
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Cleft palate, Palmoplantar hyperkeratosis, Cutaneou...	OMIM:225060
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis, Po...	ORPHA:2916
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Toe syndactyly, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar kyphosis, Oligod...	OMIM:619234
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Narrow palate, Vertebral segmentation ...	ORPHA:1323
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Ventr...	ORPHA:2473
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Microphallus, T...	OMIM:612651
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiph...	OMIM:114290
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Hypoplastic acetabulae, Fem...	OMIM:620076
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cleft palate,...	OMIM:181180
Otospondylomegaepiphyseal Dysplasia	Short neck, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morphology, Glossop...	ORPHA:1427
Charcot-Marie-Tooth Disease, Type 4B3	Pes planus, Syndactyly, Urinary incontinence, Scoliosis, Distal lower limb muscle weakness	OMIM:615284
48,Xxxy Syndrome	Delayed eruption of teeth, Pes planus, Hypoplasia of penis, Abnormal dental enamel morphology, Do...	ORPHA:96263
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Abnormality of the cervi...	OMIM:154400
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Vesicoureteral reflux, Short foot, Hydronephrosis, Abnormal...	ORPHA:250989
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Vesicouret...	OMIM:607323
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
2Q31.1 Microdeletion Syndrome	Short neck, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Vertebral segm...	ORPHA:251014
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand	ORPHA:3152
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Micropenis, Dysplastic sacrum, Hu...	OMIM:134780
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Exaggerated cupid's bow, Arachnodactyly, Long palm, Tapered finger, Camptodact...	ORPHA:2215
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Secundum atrial septal defect, High palate, Short palm,...	OMIM:249420
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short neck, High, narrow palate, Supernumerary tooth, Small hand, Abnormal for...	ORPHA:1787
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Thin upper lip vermilion, Hip contracture, Tented upper lip vermilion, Arachnodactyly, Short neck...	ORPHA:371364
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Ventricular septal defect, Abnormality of the hand, Short neck, Abnormal foot morphol...	ORPHA:369891
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Genu recurvatum, Kyphoscoliosis, Abnormality of the dentition, Split hand, Talipes equinovarus, P...	OMIM:604168
Van Maldergem Syndrome 1	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Hypospadias, Sacral dim...	OMIM:601390
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Hypoplasia ...	OMIM:618150
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses...	OMIM:309350
Spastic Paraplegia 50, Autosomal Recessive	Wide mouth, High palate, Talipes equinovarus, Short philtrum, Adducted thumb	OMIM:612936
Meckel Syndrome, Type 10	Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Hypospadias, Postaxial polyd...	OMIM:614175
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Myelomeni...	ORPHA:93929
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Arachnodactyly, Deviation of finger, Bilateral talipes equinovarus, Congenital finger flexion con...	ORPHA:1154
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Parachute mi...	OMIM:618316
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli...	ORPHA:199302
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Short neck, Anteriorly placed anus, Downturned corners of mouth, Vesicou...	OMIM:616894
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Hydranencephaly, Truncus arte...	OMIM:601355
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Congenital Disorder Of Glycosylation, Type Ig	Thin upper lip vermilion, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypospadias, Hypopl...	OMIM:607143
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial se...	OMIM:250220
Essential Fructosuria	Abnormal urine carbohydrate level, Impairment of fructose metabolism	ORPHA:2056
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, High palate, Bilateral coxa valga, Atrial septal defect, Patent foram...	OMIM:615582
Distal Deletion 6P	Abnormality of the dentition, Orofacial cleft, Downturned corners of mouth, Short foot, Vertebral...	ORPHA:96125
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Widely spaced teeth, Thoracic kyphosis, Clinodactyly, Pes cavus	OMIM:619092
Spondylodysplastic Ehlers-Danlos Syndrome	Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Atrial septal ...	ORPHA:536471
Spastic Paraplegia 52, Autosomal Recessive	Wide mouth, Thick vermilion border, High palate, Short philtrum, Talipes equinovarus	OMIM:614067
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Talipes equinovarus, Short-segment aganglionic megacolon	OMIM:619465
Liver Failure, Infantile, Transient	Irritability, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Thin upper lip vermilion, Atrial septal defect, Dextrocardia, Homocystinu...	OMIM:277380
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea...	OMIM:314390
49,Xxxxy Syndrome	Delayed eruption of teeth, Pes planus, Hypoplasia of penis, Abnormal dental enamel morphology, Do...	ORPHA:96264
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Renal cyst, Finger clinodac...	ORPHA:1692
Bruck Syndrome 2	Elbow flexion contracture, Knee flexion contracture, Femoral bowing, Platyspondyly, Talipes equin...	OMIM:609220
Alkuraya-Kucinskas Syndrome	Overlapping toe, Pericardial effusion, Abnormal foot morphology, Cutaneous syndactyly, Micropenis...	OMIM:617822
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Loeys-Dietz Syndrome 4	Pes planus, Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, Pr...	OMIM:614816
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, S...	ORPHA:140
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Pierre-Robin sequence, Flared met...	OMIM:215150
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Peroneal muscle weakness, Hyperlordosis, Calf muscle hypertrophy, Scapular muscle atrophy, Talipe...	OMIM:611588
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pi...	ORPHA:2886
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Oligodontia, Micropenis, Cleft soft palate, Gingival overgrowth, Mesomelia, Umbi...	OMIM:616331
Cog1-Cdg	Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valg...	ORPHA:263508
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short metatarsal, Finger clinod...	OMIM:617137
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi...	ORPHA:2256
Congenital Disorder Of Glycosylation, Type Ih	Short neck, Perimembranous ventricular septal defect, Protein-losing enteropathy, Talipes equinov...	OMIM:608104
Orofaciodigital Syndrome Type 2	Finger clinodactyly, High palate, Short tibia, Atrioventricular canal defect, Finger syndactyly, ...	ORPHA:2751
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Glossoptosis, Abnormally ossified vertebrae, Lumba...	ORPHA:94068
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Ventricular septal defect, Ham...	OMIM:174300
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Talipes, Hypospadias, ...	ORPHA:1335
Harderoporphyria	Increased circulating ferritin concentration, Neonatal hyperbilirubinemia	OMIM:618892
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Metaphyseal widening, Progressive alveolar ridge hypertropy, Thoracolumbar kyphosco...	OMIM:252500
Ullrich Congenital Muscular Dystrophy 1	Spinal rigidity, Kyphosis, Hip dislocation, Increased laxity of ankles, High palate, Talipes equi...	OMIM:254090
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Cleft palate, Renal cyst, Transposition ...	OMIM:231060
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Plantar flexion contracture, High palate, Talipes equinovarus, Absent Achilles reflex	OMIM:620011
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Abnormality of the dentition, Abnor...	ORPHA:3224
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly, Scoliosis	OMIM:619091
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, High palate, Hypoplastic iliac wing, Abnormal vertebral mor...	ORPHA:93315
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Cleft pal...	ORPHA:85166
Trisomy 20P	Short neck, Abnormal form of the vertebral bodies, Downturned corners of mouth, Vertebral segment...	ORPHA:261318
Van Maldergem Syndrome 2	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Ulnar deviation of the ...	OMIM:615546
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Short neck, Anteriorly placed anus, Prominent f...	OMIM:305450
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Ventricul...	ORPHA:2008
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing...	ORPHA:2980
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Lower limb asymmet...	ORPHA:35173
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Absent middle...	OMIM:308050
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Cubitus valgus, Hemivertebrae, Mitral valve prolapse, Hig...	OMIM:104350
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Xerostomia, Congenital posterior urethral valve, Talipes...	OMIM:100100
Blepharocheilodontic Syndrome 2	Tooth agenesis, Cleft lip, Cutaneous syndactyly, Conical tooth	OMIM:617681
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Anterior wedging of ...	OMIM:164745
Peroxisome Biogenesis Disorder 7A (Zellweger)	Epiphyseal stippling, High palate, Talipes equinovarus, Long philtrum	OMIM:614872
Robinow Syndrome	Dental crowding, Hemivertebrae, Orofacial cleft, Atrial septal defect, Webbed penis, Micropenis, ...	ORPHA:97360
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Osteopathia striata, High palate, Clinodactyly of the 5th finger, Atrial septal ...	OMIM:300373
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Irregular dentition, Syndactyly, Pericardial lymphangiectasia, Narrow mouth, Intestinal lymphangi...	OMIM:616006
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Cleft palate, Orofacial cleft, Triphalangeal thumb, Short mandibular rami,...	OMIM:141400
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease,...	OMIM:300707
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Short neck, Humeroradial synostosis, Cleft palate, Forea...	OMIM:251230
Larsen Syndrome	Finger syndactyly, Brachydactyly, Accessory carpal bones, Cleft palate, Vertebral segmentation de...	ORPHA:503
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia	OMIM:269920
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy, Bilateral talipes equinovarus, Tongue fasciculations, Scoliosis	ORPHA:544469
Giant Axonal Neuropathy 1, Autosomal Recessive	Pes planus, Areflexia of lower limbs, Talipes equinovarus, Scoliosis, Hyporeflexia of lower limbs...	OMIM:256850
Vacterl/Vater Association	Occipital encephalocele, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hy...	ORPHA:887
Myasthenic Syndrome, Congenital, 24, Presynaptic	Knee flexion contracture, Abnormal foot morphology, Talipes equinovarus, Camptodactyly	OMIM:618198
Temtamy Syndrome	Pes planus, Dental crowding, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes equinov...	OMIM:218340
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Cleft palate, Thick vermilion border, High palate, Short philtrum, Tali...	OMIM:619493
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossification, Metaphyseal widen...	ORPHA:93352
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Finger syndactyly, Hyp...	ORPHA:959
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Metaphyseal widening, Anterior atlanto-occipital dislocation, High palate, Microdontia, Arachnoda...	ORPHA:536467
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous...	OMIM:613573
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Short neck, Short toe, High palate, Talipes equinovarus	ORPHA:98791
Camptobrachydactyly	Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract...	OMIM:114150
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu...	OMIM:263630
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow p...	ORPHA:373
Rahman Syndrome	Talipes equinovarus, Kyphoscoliosis, Camptodactyly	OMIM:617537
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Hypospadi...	ORPHA:254346
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Grange Syndrome	Syndactyly, Ventricular septal defect, Short palm	ORPHA:79094
Monosomy 18Q	Pes planus, Absence of the pulmonary valve, Abnormal palmar dermatoglyphics, Arachnodactyly, Tape...	ORPHA:1600
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Tal...	ORPHA:1908
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Short thumb, Cleft palate, M...	OMIM:612561
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Syndactyly, Hypospadias, Renal hypoplasia, Abnormal heart mor...	ORPHA:314679
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta...	OMIM:300990
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epiphyseal ossificati...	OMIM:156550
Chromosome Xq13 Duplication Syndrome	Thin upper lip vermilion, Pes planus, Metatarsus adductus, Hip dysplasia, Talipes equinovarus, Fi...	OMIM:301069
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Long toe, Pes planus, Bowing of the long bones, Arachnodactyly, Single transverse palmar crease, ...	OMIM:130070
Parkinson Disease 15, Autosomal Recessive Early-Onset	Talipes equinovarus	OMIM:260300
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Acrofrontofacionasal Dysostosis 2	Syndactyly, Sacral dimple, Broad hallux, Hypospadias, Hand polydactyly, High palate, Broad thumb	OMIM:239710
Blepharocheilodontic Syndrome 1	Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl...	OMIM:119580
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, High, narrow palate, Short philtrum,...	ORPHA:464738
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia	OMIM:235555
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hyperbilirubinemia	OMIM:214950
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Short neck, Non-midline cleft lip, Myelomeningocele...	ORPHA:1752
Triploidy	Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Short neck, Non-midl...	ORPHA:3376
Schwartz-Jampel Syndrome	Micromelia, Short neck, Coxa vara, High palate, Wrist flexion contracture, Pursed lips, Abnormall...	ORPHA:800
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Hypospadias, Abnormal foot morphology, Abnormality of the ureter, Sho...	OMIM:180860
Neuropathy, Congenital Hypomyelinating, 3	Abnormal foot morphology, Gingival overgrowth, Narrow palate, 2-3 toe syndactyly, Thick vermilion...	OMIM:618186
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Tented upper lip vermilion, Overlapping toe, Single transverse palmar crease, Tapered finger, Hip...	OMIM:617807
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration	ORPHA:79303
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Abnormality of the urethra, Split hand, Cleft palate, Brachydactyly	ORPHA:2145
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Pes planus, Hypospadias, Single transverse palmar crease, Short nec...	OMIM:123450
Bachmann-Bupp Syndrome	Attention deficit hyperactivity disorder, Hyperbilirubinemia	OMIM:619075
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Micromelia, Short long bone, Talipes equinovar...	OMIM:224410
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Exaggerated cupid's bow, Bicuspid aortic valve, Tapered finger, Wide mouth, Macroglossia, High pa...	OMIM:614501
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia, Depression	ORPHA:69665
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Intellectual Disability-Strabismus Syndrome	Hypospadias, Rocker bottom foot, Abnormality of the dentition, Short neck, Achilles tendon contra...	ORPHA:363528
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Cleft upper lip, Conical tooth, M...	OMIM:263750
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Anencephaly, Cleft palate, ...	OMIM:612284
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Tented upper lip vermilion, Protruding tongue,...	OMIM:618580
Meier-Gorlin Syndrome 1	Genu recurvatum, Flat glenoid fossa, Hemivertebrae, Cutaneous finger syndactyly, High palate, Sho...	OMIM:224690
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver...	OMIM:618641
Pontocerebellar Hypoplasia, Type 8	Tented upper lip vermilion, Ventricular septal defect, Talipes equinovarus, Scoliosis, Talipes va...	OMIM:614961
Pallister-Hall Syndrome	Ectopic kidney, Hemivertebrae, Renal cyst, Anteriorly placed anus, Micropenis, Distal shortening ...	OMIM:146510
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral segmentation and ...	ORPHA:90652
Stickler Syndrome, Type I	Arachnodactyly, Kyphosis, Irregular femoral epiphysis, Submucous cleft hard palate, Pierre-Robin ...	OMIM:108300
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro...	OMIM:616860
Galactose Epimerase Deficiency	Aminoaciduria, Impairment of galactose metabolism	ORPHA:79238
Hepatoportal Sclerosis	Cognitive impairment, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Finger syndactyly, Brachydactyly, Hypospadias, Abnormality of the dentition, Car...	ORPHA:1786
Kleefstra Syndrome 1	Natal tooth, Hypospadias, Single transverse palmar crease, Protruding tongue, Persistence of prim...	OMIM:610253
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia	ORPHA:542323
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Femoral bowing, Aortic valve stenosis, Talipes equino...	OMIM:615415
Autosomal Recessive Spastic Paraplegia Type 59	Talipes equinovarus	ORPHA:401795
Glass Syndrome	Dental crowding, Anterior tibial bowing, Arachnodactyly, Conical tooth, Pierre-Robin sequence, Gi...	OMIM:612313
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Bohring-Opitz Syndrome	Vesicoureteral reflux, Atrial septal defect, Dislocated radial head, Syndactyly, Cleft upper lip,...	OMIM:605039
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia	ORPHA:1997
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Polydactyly, Smooth philtrum	OMIM:602501
Bartsocas-Papas Syndrome	Finger syndactyly, Median cleft lip, Toe syndactyly, Talipes, Aplasia/Hypoplasia of the distal ph...	ORPHA:1234
Limb Body Wall Complex	Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Atrial septal defect,...	ORPHA:2369
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s...	ORPHA:2010
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Brachydactyly, Abnormality of the philtrum, Ventricular septal defect, Non-midline cleft lip, Abn...	ORPHA:1770
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Thin upper lip vermilion, Brachydactyly, Diastema, Furrowed tongue, Short foot, Talipes calcaneov...	OMIM:300534
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Metatarsus adductus, Cleft palate, Abnormal heart morphology, Am...	OMIM:214110
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp...	ORPHA:989
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Camptodactyly of fi...	ORPHA:261236
Anophthalmia Plus Syndrome	Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of f...	ORPHA:1104
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c...	ORPHA:2377
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Finger clin...	ORPHA:1596
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Downturned corners of mouth, Shor...	ORPHA:280
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Hypospadias, Proximal placement of thumb, Short neck, Pierre-Robin sequence, Cleft pa...	OMIM:217980
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Non-midline cleft lip, Postaxial hand polyda...	ORPHA:2075
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Long fingers, Velopharyngeal insufficienc...	OMIM:617746
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin	OMIM:232800
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pes planus, Broad hallux, Tapered finger, Short neck, Short thumb, Wide mouth, Hip dysplasia, Hig...	OMIM:620224
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Knee flexion contracture, Epiphyseal stippling, Talipes equinovarus, Scoliosis, ...	OMIM:118650
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short attention span, Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder	ORPHA:73272
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Long foot, Abnormal thumb morphology, Me...	ORPHA:500095
Schimke Immunoosseous Dysplasia	Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Stage...	OMIM:242900
Cohen Syndrome	High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Arachnoda...	ORPHA:193
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo...	OMIM:615986
Pontocerebellar Hypoplasia, Type 1A	Talipes equinovarus, Abnormal foot morphology, Tongue fasciculations	OMIM:607596
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short neck, Esophageal atresia, Coronal hypospadias, Tracheoesophageal fistula, Lumbar hemiverteb...	OMIM:619859
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Distal lower limb muscle weakness, Talipes equinovarus	ORPHA:466794
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Hypoplastic ilia, Patel...	ORPHA:85201
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t...	OMIM:609638
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Cleft palate, Short 5th finger, Polydactyly, Small placenta, Ectrodactyl...	ORPHA:397590
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta...	OMIM:119500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Split Cord Malformation	Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Abnormal t...	ORPHA:573278
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Bicuspid aortic valve, Short finger	OMIM:300049
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Hip dislocation, Talipes equinovarus, Scoliosis, Narrow mouth, Umbili...	OMIM:219150
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, High palate, Talipes equinovarus, Scoliosis	OMIM:619752
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide mouth, Bilateral talipes equinovarus	OMIM:616521
Kleefstra Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Tented upper lip vermilion, Exaggerated cupid's b...	ORPHA:261494
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, Punctate vertebral ...	OMIM:302960
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Depression	ORPHA:293939
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Femoral bowing, Anteriorly placed anus, Vesicoureteral reflux, Abnormality o...	ORPHA:95699
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe, Ectopic kidney	OMIM:181510
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral frenulum, Cleft...	OMIM:277170
Cleidocranial Dysplasia	High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodactyly of the 5th ...	ORPHA:1452
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Single transverse palmar crease, Cleft upper l...	OMIM:244300
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dental crowding, Long fingers, Thin vermilion border, Short philtrum, Bilateral talipes equinovar...	OMIM:618343
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Hypospadias, Lower limb asymmetry,...	ORPHA:96182
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Short thumb,...	OMIM:612562
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Pyloric stenosis, Enamel hypoplasia, Syndactyly	OMIM:226700
Pfeiffer Syndrome	Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Dental crowding...	OMIM:101600
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia	OMIM:613280
Arthrogryposis Multiplex Congenita 5	Rocker bottom foot, Kyphoscoliosis, Short neck, Hip dislocation, Elbow flexion contracture, Hamme...	OMIM:618947
Shprintzen-Goldberg Craniosynostosis Syndrome	Pes planus, Arachnodactyly, Genu recurvatum, Metatarsus adductus, Metaphyseal widening, Dental ma...	OMIM:182212
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol...	ORPHA:2754
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Pes planus, Vertebral fusion, Overlapping toe, Sacral di...	OMIM:213980
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, Preaxial foot ...	OMIM:614120
Autosomal Recessive Spastic Paraplegia Type 66	Talipes equinovarus	ORPHA:401815
Congenital Disorder Of Deglycosylation 2	Sacral dimple, Ulnar deviation of the hand, Sandal gap, Genu recurvatum, Hamartoma of tongue, Mac...	OMIM:619775
Prader-Willi Syndrome Due To Translocation	Short neck, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Patent fora...	ORPHA:177907
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Ectopic kidney, Absent radius, Preaxial hand polydactyly, Short ...	ORPHA:233
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Finger syndactyly, Abnorma...	ORPHA:2710
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ...	ORPHA:352665
Pontocerebellar Hypoplasia, Type 11	Pes planus, Talipes equinovarus, Anal atresia	OMIM:617695
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar creases, Ab...	OMIM:612394
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Intestinal malrotation	OMIM:601163
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the ...	OMIM:300166
Trisomy 10P	Thumb contracture, Abnormality of the hand, Abnormal foot morphology, Short toe, Hemivertebrae, O...	ORPHA:171929
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Thin upper lip vermilion, Finger syndactyly, Dental crowding, Single transverse p...	ORPHA:435938
Native American Myopathy	Cleft palate, Abnormal curvature of the vertebral column, Downturned corners of mouth, High palat...	ORPHA:168572
Mosaic Trisomy 16	Syndactyly, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Large placen...	ORPHA:1708
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Short neck, High, narrow palate, Abnormal tibia morphology, Foot...	ORPHA:2879
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Meningocele, Patellar hypoplasia, Wide mouth, Talipes equinovaru...	ORPHA:1827
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Hydroureter, Abnormal dental morphology, Camptodact...	ORPHA:568
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Ventricular septal defect, Tarsal synostosis, Short neck, Elbo...	OMIM:178110
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa...	OMIM:306955
Oliver Syndrome	Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental malocclusion, Elbow flexio...	ORPHA:2920
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop...	OMIM:617895
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,...	ORPHA:3253
Lissencephaly 8	Occipital encephalocele, Talipes equinovarus	OMIM:617255
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate	ORPHA:250999
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormal dental enamel morphology, Kyphosis, Abnormality of the elbow, Hip dis...	ORPHA:1005
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Anal stenosis, Pes planus, 2-3 toe cutaneous syndactyly, 3-4 finger cut...	OMIM:620029
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Hypospadias, Proximal placement of thumb, Narrow mouth, Glandular hypospadias, Narrow palate, Dee...	OMIM:604314
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Hamamy Syndrome	Long toe, Thin upper lip vermilion, Syndactyly, Down-sloping shoulders, Tapered finger, Complete ...	OMIM:611174
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Fused teeth, High palate, Atrial septal defect,...	ORPHA:93932
Tetrasomy 5P	Overlapping toe, Short hallux, Short neck, Long fingers, High palate, Talipes equinovarus, Long p...	ORPHA:3309
Kbg Syndrome	Short palm, Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Single transve...	OMIM:148050
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Pes planus, Tapered finger, Hyperlordosis, Cleft lip, Hip dislocation, Cleft palate, Genu valgum,...	OMIM:301066
Carey-Fineman-Ziter Syndrome 1	Tapered finger, Spinal rigidity, Pierre-Robin sequence, Cleft palate, Glossoptosis, Abnormal card...	OMIM:254940
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Irritability, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Irritability, H...	OMIM:603553
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Atrial septa...	OMIM:312870
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur...	ORPHA:3103
Ring Chromosome 12 Syndrome	Syndactyly, Lumbar hyperlordosis, Secundum atrial septal defect, High, narrow palate, Abnormal 5t...	ORPHA:1439
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
Spinocerebellar Ataxia, Autosomal Recessive 21	Talipes equinovarus	OMIM:616719
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to...	OMIM:311200
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Talipes cavus equinovarus	ORPHA:139485
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Kyphoscoliosis, Talipes cavus equinovarus, Hammertoe, Pes cavus	OMIM:601455
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long philtrum	ORPHA:1252
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,...	ORPHA:1001
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Coxa vara...	OMIM:614976
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, ...	OMIM:607361
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Alg8-Cdg	Macroglossia, Talipes equinovarus, Camptodactyly, Type I transferrin isoform profile, Brachydactyly	ORPHA:79325
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger,...	OMIM:280000
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Autosomal Recessive Dopa-Responsive Dystonia	Pes cavus, Talipes equinovarus	ORPHA:101150
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Cleft palate, Hi...	OMIM:616038
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyop...	ORPHA:158687
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Finger syndactyly, Multicystic kidney dysplasia, Abnormal dental...	ORPHA:2092
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Non-midline cleft lip, Fibr...	ORPHA:1300
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:601847
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Ventricular septal defect, Overlapping toe, Short foot, Hip dysplasia, Hip dislo...	OMIM:618268
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Cleft lip, Kyphosis, Cleft palate, Pulmonic stenosis, Camptodactyly, C...	OMIM:619123
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Short neck, High, narrow palate, Abnormality of the gingiva, Epi...	ORPHA:3107
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus	OMIM:618174
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial...	ORPHA:1553
Intellectual Developmental Disorder, Autosomal Dominant 51	Long toe, Long foot, Talipes equinovarus	OMIM:617788
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl...	ORPHA:246
Rapp-Hodgkin Syndrome	Syndactyly, Hypospadias, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficie...	OMIM:129400
20P13 Microdeletion Syndrome	Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Polydactyly, Clinodactyl...	ORPHA:313781
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Cutis Laxa, Autosomal Recessive, Type Iic	Pes planus, Dental crowding, Overlapping toe, Kyphoscoliosis, Pyloric stenosis, Hand clenching, M...	OMIM:617402
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Cleft lip, Kyphosis, Dysplas...	ORPHA:1724
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, H...	OMIM:180849
Bartsocas-Papas Syndrome 1	Ectopic kidney, Short neck, Hypoplastic iliac wing, Micropenis, Short phalanx of finger, Patent f...	OMIM:263650
X Small Rings	Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Taper...	ORPHA:96201
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Pes cavus, Talipes equinovarus, Intrinsic hand muscle atrophy, Knee flexion contracture	OMIM:615490
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Malabsorption, Aplasia/Hypoplasia of t...	ORPHA:1225
Lathosterolosis	Toe syndactyly, Lumbosacral meningocele, Myelomeningocele, Postaxial hand polydactyly, Gingival o...	OMIM:607330
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia	OMIM:211600
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly, Hamartoma of tongue, Subvalvular aortic stenosis	ORPHA:1338
Alg9-Cdg	Villous atrophy, Short neck, Right ventricular dilatation, Abnormal left ventricular outflow trac...	ORPHA:79328
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Camptodactyly of finger, High, narrow palate, Ulnar deviation of finger, Talipes equinovarus, Tri...	ORPHA:1101
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Th...	OMIM:614800
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Hi...	OMIM:617063
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud...	ORPHA:73246
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid...	ORPHA:2750
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crease, Rocker b...	OMIM:214100
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Hyperlordosis, ...	ORPHA:794
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ...	OMIM:165590
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Talipes equinovaru...	OMIM:617865
Alg12-Cdg	Thin upper lip vermilion, Sandal gap, Intestinal malrotation, Ulnar deviation of the wrist, Proxi...	ORPHA:79324
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, M...	OMIM:611134
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forearm bowing, Micromeli...	OMIM:600383
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Hypocholesterolemia	OMIM:607765
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Clef...	OMIM:603671
Cutis Laxa, Autosomal Dominant 3	Os odontoideum, Unilateral renal agenesis, Hip dislocation, Talipes equinovarus, Adducted thumb	OMIM:616603
Oculodentodigital Dysplasia	Atrial septal defect, Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teet...	OMIM:164200
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Bilateral talipes equinovarus, Short neck, Ankle flexion contracture, Knee flexion contracture	ORPHA:284417
Kyphoscoliotic Ehlers-Danlos Syndrome	Pes planus, Congenital hip dislocation, Bicuspid aortic valve, Dextrocardia, Arachnodactyly, Abno...	ORPHA:536545
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Short neck, Cleft palate, Downturned corne...	OMIM:614230
Bardet-Biedl Syndrome 6	Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly	OMIM:605231
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Short neck,...	ORPHA:178303
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Laryngeal Abductor Paralysis	Talipes equinovarus	OMIM:150260
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia	OMIM:266200
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe syndactyly, Hypospa...	ORPHA:217346
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta	ORPHA:1514
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Short neck, Talipes calcaneovalgus, Widely-spaced maxillary central i...	OMIM:309580
Wrinkly Skin Syndrome	Congenital hip dislocation, Coxa vara, High palate, Microdontia, Scapular winging, Deep plantar c...	OMIM:278250
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Talipes equinovarus	OMIM:618917
Myhre Syndrome	Short palm, Abnormal penis morphology, Brachydactyly, Hypospadias, Epispadias, Submucous cleft ha...	ORPHA:2588
Tetrasomy 9P	Dental crowding, Short neck, Downturned corners of mouth, High palate, Short philtrum, Clinodacty...	ORPHA:3310
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Congenital hip dislocation, Dental crowding, Ankle flexion contracture, Hyperlor...	ORPHA:2020
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Esophageal varix, Pulmonic stenosis, Right ventricular hypertrophy, Um...	OMIM:616028
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Talipes, Ab...	ORPHA:974
Jaberi-Elahi Syndrome	Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Triangular mouth	OMIM:617988
Graft Versus Host Disease	Irritability, Hyperbilirubinemia	ORPHA:39812
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Orofacial cleft, Abnormal form of the vertebral bodies, Downturn...	OMIM:194190
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Thin vermilion border, Short ph...	ORPHA:3255
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H...	ORPHA:3008
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Synaptic Congenital Myasthenic Syndromes	Abnormality of the knee, Scapular winging, Limited wrist extension, Hand muscle weakness, High pa...	ORPHA:98915
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of finger, Abnorma...	ORPHA:284160
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip,...	OMIM:100300
Sacral Defect With Anterior Meningocele	Back pain, Myeloschisis, Neurogenic bladder, Absence of the sacrum, Hemisacrum, Myelomeningocele,...	OMIM:600145
Pili Torti-Onychodysplasia Syndrome	Cleft lip, Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly	ORPHA:2890
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
49,Xxxyy Syndrome	Finger clinodactyly, Micropenis, Bilateral talipes equinovarus, Abnormal plantar dermatoglyphics	ORPHA:261534
Timothy Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Microdon...	OMIM:601005
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Abnormal foot morphology, Abnorm...	ORPHA:2990
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomeningocele, Abs...	ORPHA:63259
De Barsy Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Kyphoscoliosis,...	ORPHA:2962
Galactose Mutarotase Deficiency	Impairment of galactose metabolism	ORPHA:570422
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine...	ORPHA:3202
9Q33.3Q34.11 Microdeletion Syndrome	Single transverse palmar crease, Short neck, Tented philtrum, Patellar aplasia, Patellar hypoplas...	ORPHA:495818
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Broad ha...	ORPHA:2308
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Deep philtrum, Dental ...	OMIM:227330
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, Talipes calcaneovalgus, Abnormal fo...	ORPHA:818
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Cardiomegaly, Eruption failure, Expanded metacarpals with wi...	OMIM:182250
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o...	OMIM:615789
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia	OMIM:251880
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Developmental And Epileptic Encephalopathy 89	Thin upper lip vermilion, Cleft palate, Talipes equinovarus, Scoliosis, Long philtrum, Limb under...	OMIM:619124
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Single transverse palmar crease, Enuresis, Renal Fanconi syndrome...	OMIM:619743
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thum...	OMIM:192350
Autoimmune Hepatitis	Depression, Increased total bilirubin	ORPHA:2137
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Mi...	ORPHA:87
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Abnormality of the dentition, A...	OMIM:151050
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia	OMIM:613812
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Hypospadias, Talipes equinovarus, Narrow mouth	OMIM:177980
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Aganglionic megacolon, Abnormality of the dentit...	ORPHA:847
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Abnormalit...	ORPHA:783
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia	OMIM:613673
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, ...	ORPHA:3404
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Pes planus, Thoracic scoliosis, Thoracic kyphoscoliosis, High, narrow palate, Hip dislocation, El...	ORPHA:1900
Mirage Syndrome	Hypospadias, Rocker bottom foot, Radial club hand, Esophageal stricture, Talipes equinovarus, Mic...	OMIM:617053
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Sh...	OMIM:619879
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, High,...	ORPHA:3472
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism affecting the phalange...	ORPHA:2658
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, Postaxial hand...	OMIM:609192
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, S...	OMIM:614083
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Renal Agenesis	Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ...	ORPHA:411709
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia	OMIM:613404
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Short ...	OMIM:208150
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia...	OMIM:263520
Oeis Complex	Absence of the sacrum, Congenital hip dislocation, Hydroureter, Intestinal malrotation, Epispadia...	OMIM:258040
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hiatus hernia, Wide mouth, Nephrot...	OMIM:251300
Grange Syndrome	Syndactyly, Bicuspid aortic valve, Renovascular hypertension, Finger clinodactyly, Renal artery s...	OMIM:602531
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m...	ORPHA:1071
Isolated Thyroid-Stimulating Hormone Deficiency	Depression, Attention deficit hyperactivity disorder, Hypercholesterolemia, Abnormal circulating ...	ORPHA:90674
Microhydranencephaly	Hydranencephaly, Talipes equinovarus	OMIM:605013
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin...	OMIM:615503
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Congenital hip dislocation, Kyphoscoliosis, Short thumb, Supernumerary...	OMIM:268400
Bardet-Biedl Syndrome 1	Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydactyly, High, narrow palate, P...	OMIM:209900
Osteopetrosis, Autosomal Recessive 5	Irritability, Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Urinary incontinence, Talipes equinovarus	OMIM:604320
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Hypospadias, Aganglionic megacolon, Cleft palate	ORPHA:66629
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
8P11.2 Deletion Syndrome	Hypoplasia of penis, Sacral dimple, Mitral valve prolapse, High palate, Talipes equinovarus, Atri...	ORPHA:251066
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Ureteral stenosis, Increased density of long bones, Single transverse pa...	OMIM:269150
Joubert Syndrome 33	Syndactyly	OMIM:617767
Halperin-Birk Syndrome	Hip dislocation, Perimembranous ventricular septal defect, Thick vermilion border, High palate, T...	OMIM:618651
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Broad...	ORPHA:1942
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration	OMIM:614887
Steinfeld Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal heart...	OMIM:184705
Loeys-Dietz Syndrome 2	Syndactyly, Pes planus, Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the e...	OMIM:610168
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Overlapping toe, Genu recurvatum, Hip dislocation, Elbow flexion contracture, Ta...	OMIM:617301
Meckel Syndrome, Type 1	Occipital encephalocele, Short neck, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial foo...	OMIM:249000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia	OMIM:300908
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Stüve-Wiedemann Syndrome	Bowing of the long bones, Sacral dimple, Camptodactyly of finger, Micromelia, Abnormality of the ...	ORPHA:3206
22Q11.2 Deletion Syndrome	Short neck, Short philtrum, Atrial septal defect, Vesicoureteral reflux, Arachnodactyly, Abnormal...	ORPHA:567
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Dementia, Hypoalbuminemia, High ...	OMIM:277900
Mucolipidosis Type Ii	Hip contracture, Abnormal mitral valve morphology, Limited wrist movement, Kyphosis, Hip dislocat...	ORPHA:576
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Kyphosis, Scoliosis, Abnormal mitral valve morphology, Short hard palate, Genu...	ORPHA:1969
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:1647
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Thin upper lip vermilion, Arachnodactyly, Intestinal malrotation, Hiatus hernia, Adducted thumb, ...	OMIM:601776
Rh Deficiency Syndrome	Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Cleidocranial Dysplasia 1	Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, High palate, Hypoplastic ...	OMIM:119600
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturned corners of mouth, N...	ORPHA:79500
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Syndactyly, Abnormality of the dentition, Broad palm, Wide mouth, Thick vermilion border, Clinoda...	OMIM:618505
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Pes planus, Deep philtrum, Renal cyst, Wide mouth, Talipes equinovarus, Mitral stenosis, Smooth p...	OMIM:617260
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig...	OMIM:117650
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ...	ORPHA:210122
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Ketonuria, Aminoaciduria, High palate, Umbilical hernia	OMIM:614520
Faciocardiorenal Syndrome	Narrow mouth, Cleft palate, Horseshoe kidney, Hypodontia, Tricuspid valve prolapse, Endocardial f...	ORPHA:1973
Glycogen Storage Disease Xii	Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia	OMIM:611881
Degcags Syndrome	Bilateral renal hypoplasia, High palate, Reduced blood folate concentration, Atrial septal defect...	OMIM:619488
Barth Syndrome	Dilated cardiomyopathy, 3-Methylglutaconic aciduria, Talipes equinovarus, Endocardial fibroelasto...	OMIM:302060
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Limited elbow move...	OMIM:261540
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Cleft lip, Complete atrioventricular canal defe...	OMIM:619343
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Atrial septal defect, Vesicoureteral reflux, 2-4 finger sy...	OMIM:107480
Sclerosteosis 1	Syndactyly, Dental malocclusion, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic gird...	OMIM:269500
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Bilateral talipes equinovarus, Broad distal phala...	OMIM:609465
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia	OMIM:224120
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Pes planus, Congenital hip dislocation, Arachnodactyly, Dental crowding, Protrusio acetabuli, Kyp...	OMIM:225400
Fanconi Anemia	Abnormal femur morphology, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly o...	ORPHA:84
X-Linked Intellectual Disability, Nascimento Type	Pes cavus, Ventricular septal defect, Overlapping toe, Hypospadias, Deep philtrum, Double outlet ...	ORPHA:163956
Peroxisome Biogenesis Disorder 5A (Zellweger)	Ventricular septal defect, Single transverse palmar crease, Hypospadias, Metatarsus adductus, Cle...	OMIM:614866
Lacrimoauriculodentodigital Syndrome	Xerostomia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary gland morpholo...	ORPHA:2363
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia...	ORPHA:14
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia	OMIM:208085
Stt3B-Cdg	Abnormal glycosylation, Micropenis	ORPHA:370924
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia	OMIM:620306
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Atrial s...	OMIM:304120
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ...	ORPHA:69085
Rett Syndrome, Congenital Variant	Pes planus, Thin upper lip vermilion, Kyphosis, Talipes equinovarus, Scoliosis	OMIM:613454
Congenital Disorder Of Glycosylation, Type Ix	Abnormal glycosylation, Micropenis	OMIM:615597
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Cystic Echinococcosis	Hyperbilirubinemia	ORPHA:400
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Abnormal dental ...	ORPHA:1896
Rhombencephalosynapsis	Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact...	ORPHA:59315
Barber-Say Syndrome	Delayed eruption of teeth, Velopharyngeal insufficiency, Dental malocclusion, Gingival overgrowth...	OMIM:209885
Meier-Gorlin Syndrome 3	Hypospadias, Aplasia/Hypoplasia of the patella, Patellar aplasia, Patellar hypoplasia, Coxa vara,...	OMIM:613803
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Syndactyly, Small hand, Penoscrotal hypospadias	OMIM:616489
Stt3A-Cdg	Abnormal glycosylation, Micropenis	ORPHA:370921
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Pes cavus, Talipes equinovarus, Scoliosis	ORPHA:98808
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Thin upper lip vermilion, Sacral dimple, Short neck, High, narrow palate, Talipes cavus equinovar...	OMIM:300966
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Duplication of thu...	OMIM:601707
Congenital Disorder Of Glycosylation, Type Iio	Abnormal glycosylation	OMIM:616828
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Ventricular septal defect, 2-3 toe syndactyly, Aortopulmonary window, Coronal ...	OMIM:620025
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga...	ORPHA:90038
Autosomal Dominant Cutis Laxa	Pes planus, Genu recurvatum, Unilateral renal agenesis, Dilatation of the ventricular cavity, Hip...	ORPHA:90348
Spastic Paraplegia 51, Autosomal Recessive	Wide mouth, Short philtrum, Talipes equinovarus	OMIM:613744
Hereditary Spherocytosis	Hyperbilirubinemia	ORPHA:822
Fanconi Anemia, Complementation Group F	Sacral dimple, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Vesico...	OMIM:603467
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Postaxial hand ...	ORPHA:110
Morgagni-Stewart-Morel Syndrome	Abnormal metabolism	ORPHA:77296
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d...	ORPHA:2907
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Bilateral ...	ORPHA:522077
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Wide mouth, Hand polydactyly, Foot polydactyly	ORPHA:60040
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Pes planus, Bicuspid aortic valve, Secundum atrial septal defect, Long fingers, Talipes...	OMIM:613355
Genitopatellar Syndrome	Congenital hip dislocation, Knee flexion contracture, Anteriorly placed anus, Atrial septal defec...	OMIM:606170
Prader-Willi Syndrome	Thin upper lip vermilion, Syndactyly, Carious teeth, Kyphosis, Acromicria, Small hand, Narrow pal...	OMIM:176270
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Kyphosis, Myelomeningocele...	ORPHA:1393
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fi...	OMIM:616263
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Pes planus, Cleft soft palate, Kyphoscoliosis, Atlantoaxial instability, Bladder diverticulum, Ta...	OMIM:614557
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Knee flexion contracture, Inflammation of the large intestine, Rectovaginal fistula, Bi...	OMIM:619708
Cranioectodermal Dysplasia 2	Short neck, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Micr...	OMIM:613610
Renal Hypodysplasia/Aplasia 1	Proteinuria, Talipes equinovarus	OMIM:191830
Neurooculorenal Syndrome	Intestinal malrotation, Dextrocardia, Short hallux, Unilateral renal agenesis, Short 1st metacarp...	OMIM:620305
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Hydrolethalus Syndrome 1	Median cleft lip, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,...	OMIM:236680
Lethal Congenital Contracture Syndrome 9	Thin upper lip vermilion, Thoracic kyphoscoliosis, Ulnar deviation of the hand, Talipes equinovar...	OMIM:616503
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Sacral dimple, Aganglionic megacolon, Tapered finger, Short philtrum, Talipes equinovarus	OMIM:613603
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Epiphyseal stippling, Short metacarpal, Talipes equinovarus, Short distal phalanx of finger	ORPHA:86822
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, High palate, Talipes equinovarus, Hand clenching, Open mouth	OMIM:614653
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro...	ORPHA:2753
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Short neck, Calcaneovalgus deformity, Patent foramen ovale, Finger synda...	OMIM:256520
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Syndactyly, Clinodactyly, Scoliosis	ORPHA:2169
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Cleft lip, Vesicoureter...	OMIM:616975
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Short neck, Clubbing, Micropenis, Thin vermil...	ORPHA:96123
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, High palate, Proximal placement of thumb	ORPHA:139471
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Short attention span, Depression, Irritability, Diminished ability to concentrate, Cognitive impa...	OMIM:619475
Holoprosencephaly 13, X-Linked	Median cleft lip, Ventricular septal defect, Submucous cleft hard palate, Vertebral clefting, Cle...	OMIM:301043
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Finger syndactyly, Ventricular septal defect, Ectopic kidney, Short toe, Or...	ORPHA:1519
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou...	OMIM:236700
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormality of the lower limb, O...	ORPHA:1556
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Calf muscle hypertrophy, Multiple renal cysts, Talipes equinovarus, Red...	OMIM:618733
Fumarase Deficiency	Hyperbilirubinemia	OMIM:606812
Desmosterolosis	Rhizomelia, Gingival fibromatosis, Alveolar ridge overgrowth, Cleft palate, Bilateral talipes equ...	OMIM:602398
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Clinodactyly	OMIM:618087
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Exaggerated cupid's bow, Long fingers, Hypoplastic coccygeal vertebra...	OMIM:619512
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Loeys-Dietz Syndrome 3	Bicuspid aortic valve, Knee osteoarthritis, High palate, Atrial septal defect, Bifid uvula, Arach...	OMIM:613795
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Hypospadias, S...	ORPHA:2211
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Viss Syndrome	Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Atrial septal ...	OMIM:619472
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Intellectual Developmental Disorder, Autosomal Dominant 38	Tented upper lip vermilion, Downturned corners of mouth, High palate, Talipes equinovarus, Everte...	OMIM:616393
Congenital Myopathy 13	Kyphoscoliosis, Cleft palate, Downturned corners of mouth, High palate, Bilateral talipes equinov...	OMIM:255995
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
D-Bifunctional Protein Deficiency	Split hand, Renal cyst, Hammertoe, High palate, Talipes equinovarus, Long philtrum	OMIM:261515
Seckel Syndrome 9	Atrial septal defect, Ventricular septal defect, Talipes equinovarus	OMIM:616777
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Kyphoscoliosis, Hip dislocation, Micropenis, Hip dysplasia, Talipes equi...	OMIM:617403
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Costello Syndrome	Hyperextensibility of the finger joints, Renal insufficiency, Ventricular septal defect, Limited ...	OMIM:218040
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Open bite, Deep philtrum, Wide mouth, Short foot, Ever...	ORPHA:1974
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, High palate, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, High palate, ...	ORPHA:353277
Microphthalmia, Syndromic 1	Dental crowding, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, High, narrow palate, Rec...	OMIM:309800
Charge Syndrome	Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, ...	OMIM:214800
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Pes planus, Sacral dimple, Hypospadias, Single transverse ...	OMIM:223370
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cleft upper lip, Split hand, Clubbing, Cleft palate, Micr...	OMIM:600460
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistula, Bilateral renal h...	ORPHA:49
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anterior...	OMIM:305600
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Increased intervertebral space, Thick lower lip...	OMIM:619727
Fraser Syndrome 2	Intestinal malrotation, Unilateral renal agenesis, Short neck, Rectal atresia, Renal hypoplasia, ...	OMIM:617666
Roberts-Sc Phocomelia Syndrome	Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal defect, Phocome...	OMIM:268300
Caroli Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:480520
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Downturned corners of mouth, Genu varum, Long toe, Hyp...	OMIM:264090
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Abnormal vertebral morpholo...	OMIM:615709
Congenital Disorder Of Glycosylation, Type Iiq	Abnormal glycosylation	OMIM:617395
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Anteriorly placed anus, Short upper lip, Wide mouth, Cutaneous ...	OMIM:200110
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Abnormal dental enamel morphology, Premature loss of prima...	ORPHA:2908
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo...	ORPHA:2136
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Senior-Boichis Syndrome	Attention deficit hyperactivity disorder, Increased total bilirubin	ORPHA:84081
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia	ORPHA:464321
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia, Downturned corners of mouth, Short foot, Sho...	ORPHA:264200
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ...	ORPHA:464
Sotos Syndrome	Ureteral duplication, No permanent dentition, Pedal edema, Vesicoureteral reflux, Atrial septal d...	ORPHA:821
Optic Atrophy 11	Bilateral talipes equinovarus	OMIM:617302
Ogden Syndrome	Irritability, Hyperbilirubinemia	OMIM:300855
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Alpha-Mannosidosis, Infantile Form	Short neck, Genu valgum, Oligosacchariduria, Macroglossia, Cortical thickening of long bone diaph...	ORPHA:309282
Caroli Disease	Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration	ORPHA:53035
Liver Disease, Severe Congenital	Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Increas...	OMIM:619991
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Classical Ehlers-Danlos Syndrome	Pes planus, Phalangeal dislocation, Hiatus hernia, Abnormal foot morphology, Rectal prolapse, Hip...	ORPHA:287
Pearson Marrow-Pancreas Syndrome	Hyperbilirubinemia	OMIM:557000
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Neurocardiofaciodigital Syndrome	Syndactyly, Vesicoureteral reflux, Double inlet left ventricle, Thin vermilion border, High palat...	OMIM:619869
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Irritability, Unconjugated hyperbilirubinemia	OMIM:618278
Fanconi-Bickel Syndrome	Bowing of the long bones, Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocal...	ORPHA:2088
Fraser Syndrome	Hypoplasia of penis, Dental crowding, Orofacial cleft, Urethral atresia, Vertebral segmentation d...	ORPHA:2052
Fontaine Progeroid Syndrome	Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Oligodontia, Atrial septal de...	OMIM:612289
Bilateral Polymicrogyria	Wide mouth, Difficulty in tongue movements, Talipes equinovarus	ORPHA:268940
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Arachnodactyly, Talipes equinovarus	OMIM:619036
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia	ORPHA:168577
Isolated Biliary Atresia	Conjugated hyperbilirubinemia	ORPHA:30391
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus d...	ORPHA:261537
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Smooth philtrum, Long philtrum	OMIM:616430
Reynolds Syndrome	Calcinosis, Hyperbilirubinemia	OMIM:613471
Adult Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Spli...	ORPHA:978
Hardikar Syndrome	Irritability, Hyperbilirubinemia	OMIM:301068
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Unilateral brachydactyly, Wide mouth, High palate, Aplasia/Hy...	ORPHA:1521
Hartsfield Syndrome	Syndactyly, Median cleft lip, Hypospadias, Cleft upper lip, Cleft palate, Ectrodactyly, Micropenis	OMIM:615465
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Talipes equinovarus	ORPHA:171695
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, 3-4 finger cut...	OMIM:181270
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Autosomal Recessive Spastic Paraplegia Type 55	Talipes equinovarus, Tibialis muscle weakness	ORPHA:320375
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Bicuspid aortic valve, Single transverse palmar crease, Deep philtrum, Vesicou...	OMIM:150230
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Erosion of oral mucosa, Renal insufficiency, Foot joint contracture, Anal fis...	ORPHA:79408
Mowat-Wilson Syndrome	Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus d...	ORPHA:2152
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia, Progressive neurologic deterioration	OMIM:210710
Japanese Encephalitis	Genu recurvatum, Elbow flexion contracture, Distal upper limb muscle weakness, Talipes equinovaru...	ORPHA:79139
Aprosencephaly And Cerebellar Dysgenesis	Talipes equinovarus, Bifid uvula	OMIM:601374
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus d...	ORPHA:261552
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Congenital Erythropoietic Porphyria	Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi...	ORPHA:79277
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Coffin-Siris Syndrome 12	Hypospadias, Celiac disease, Short thumb, Velopharyngeal insufficiency, Submucous cleft hard pala...	OMIM:619325
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia	OMIM:620186
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodon...	ORPHA:286
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Thin upper lip vermilion, Toe clinodactyly, Ventricular septal defect, Sandal gap, Short neck, Lo...	OMIM:620330
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Jejunal atresia, Hypospadias, Ileal atresia, Kyphoscoliosis, Chordee, Long philtrum, ...	OMIM:618820
Ehlers-Danlos Syndrome, Vascular Type	Cystocele, Foot acroosteolysis, Mitral valve prolapse, Osteolytic defects of the phalanges of the...	OMIM:130050
Proteus Syndrome	Hallux valgus, Finger syndactyly, Abnormal dental enamel morphology, Macrodactyly, Metatarsus val...	ORPHA:744
Bloom Syndrome	Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly, Agenesis of maxillary lateral incisor	OMIM:210900
Developmental And Epileptic Encephalopathy 50	Abnormal glycosylation, Renal tubular acidosis, Oroticaciduria	OMIM:616457
Fraser Syndrome 3	Ureteral agenesis, Short toe, Hypoplasia of penis, Cutaneous syndactyly	OMIM:617667
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short neck, Clinodactyly of the 5th finger, B...	ORPHA:1587
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Intestinal pseudo-obstruction, Abnormality of the tongue muscle, Dila...	ORPHA:273
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Hydroxykynureninuria	Abnormal circulating tryptophan concentration	ORPHA:79155
Hydroxykynureninuria	Aminoaciduria	OMIM:236800

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 Kynu

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 Kynu.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Quinolinate promotes macrophage-induced immune tolerance in glioblastoma through the NMDAR/PPARγ signaling axis.	Nature communications (March 2023)	Kynu^em1(IMPC)J	PMC10020159

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MGI Allele	Allele Type	Produced
Kynu^{tm43881(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Kynu^em1(IMPC)J	Exon Deletion	Mice
Kynu^{tm43881(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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Gene: Kynu MGI:1918039

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Eye Morphology

Auditory Brain Stem Response

Human diseases caused by Kynu mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data