Gene Summary

Name:
cyclin dependent kinase 20
Synonyms:
Ccrk,  4932702G04Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Cdk20em1(IMPC)Bay HOM   Early adult 0.00
abnormal facial morphology Cdk20em1(IMPC)Bay HOM E18.5 0.00
anophthalmia Cdk20em1(IMPC)Bay HOM E18.5 0.00
polydactyly Cdk20em1(IMPC)Bay HOM E18.5 0.00
abnormal embryo size Cdk20em1(IMPC)Bay HOM E18.5 0.00
abnormal body wall morphology Cdk20em1(IMPC)Bay HOM E18.5 0.00
cleft palate Cdk20em1(IMPC)Bay HOM E18.5 0.00
facial cleft Cdk20em1(IMPC)Bay HOM E18.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

MicroCT E18.5

Embryo reconstruction

4 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Cdk20 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cdk20 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Deep palmar crease, Microphthalmia, Cleft palate OMIM:600251
Fryns Microphthalmia Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural ... OMIM:600776
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Neural tube defect OMIM:615041
Anophthalmia Plus Syndrome
Tessier cleft, Deviation of finger, Anophthalmia, Bilateral cleft palate, Spina bifida, Non-midli... ORPHA:1104
Anencephaly 2
Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence... OMIM:619452
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Abnormality of the dentition, Conical tooth, Small hand, Overlapping fingers, Soli... ORPHA:952
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Median cleft upper lip, Apl... ORPHA:1794
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Joubert Syndrome 15
Preaxial polydactyly, Retinopathy, Exencephaly, Retinal dystrophy OMIM:614464
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate... OMIM:601357
Syngnathia
Cleft palate OMIM:119550
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Microphthalmia/Coloboma 5
Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Broad proximal phalanges of the hand, Bilateral microphthalmo... OMIM:607597
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Cerebrooculonasal Syndrome
Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max... ORPHA:66625
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... OMIM:311895
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu... OMIM:617927
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Heart-Hand Syndrome Type 2
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor... ORPHA:1350
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Cleft palate, Syndactyly ORPHA:294975
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Microphthalmia, Hi... OMIM:206920
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Encephalocele, Anophthalmia, Polydactyly, Talipes equin... OMIM:613885
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Finger syndactyly, Tooth ... ORPHA:1786
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal dental morphology, Abnor... ORPHA:1837
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Short 5th finger, Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Small thenar ... OMIM:239800
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate, Microphthalmia OMIM:613456
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Cleft palate, Pierre-Robin sequence OMIM:172880
Diprosopus
Cleft palate, Anencephaly, Abnormality of retinal pigmentation, Non-midline cleft of the upper lip ORPHA:1681
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of t... ORPHA:2476
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615990
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Encephalocele, Talipes equinovarus, Hand polydactyly, Omphalocele... OMIM:217100
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial hand polydactyly,... OMIM:614120
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly ORPHA:141333
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal morphology of ulna, Split h... ORPHA:971
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Long philtrum, Talipes equinovarus, Spi... OMIM:211960
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Acalvaria
Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Cleft palate ORPHA:945
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Exostoses, Multiple, Type Ii
Cervical myelopathy, Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exo... OMIM:133701
Exostoses, Multiple, Type I
Cervical myelopathy, Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exo... OMIM:133700
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Microphthalmia, Syndromic 12
Intestinal malrotation, Anophthalmia, Cleft palate, Microphthalmia OMIM:615524
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Broad thumb, Umbilical hernia, Pre... ORPHA:380
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Split-Hand/Foot Malformation 1
Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala... OMIM:183600
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Microphthalmia, Cleft palate OMIM:164180
Sprengel Deformity
Abnormal shoulder morphology, Abnormality of the shoulder girdle musculature, Cleft palate, Shoul... ORPHA:3181
Maternal Hyperthermia-Induced Birth Defects
Intrauterine growth retardation, Bilateral single transverse palmar creases, Aplasia/Hypoplasia a... ORPHA:2216
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Metap... OMIM:618889
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Ulnar bowing, Single tra... OMIM:617866
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Spina bifida, Retinal degeneration OMIM:311000
2q33.1 deletion syndrome
High palate, Inguinal hernia, Cleft palate DECIPHER:51
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, C... OMIM:249710
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Micromelia, Anophthalmia, Submucous cleft hard... ORPHA:2189
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of th... OMIM:603194
Supernumerary Nostril
Tessier cleft ORPHA:141096
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... ORPHA:2639
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Humero-Radial Synostosis
Elbow dislocation, Chorioretinal coloboma, Abnormality of the wrist, Tarsal synostosis, Aplasia/H... ORPHA:3265
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Bardet-Biedl Syndrome 5
Polydactyly, Brachydactyly, Macular dystrophy, Rod-cone dystrophy, Syndactyly OMIM:615983
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, Median cleft upper lip, 2-3 toe syndactyly, Split ha... DECIPHER:46
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... ORPHA:2633
Eem Syndrome
Carious teeth, Finger syndactyly, Ectrodactyly, Selective tooth agenesis, Widely spaced teeth, Ab... ORPHA:1897
Craniofacial Microsomia 2
Bifid uvula, Dermal sinus tract, Submucous cleft palate OMIM:620444
Frontofacionasal Dysplasia
Tessier cleft, Encephalocele, Microphthalmia, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Bardet-Biedl Syndrome 11
Retinopathy, Polydactyly OMIM:615988
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Talipes equinovarus, Microphthalmia, Rocker bottom foot, Cleft p... OMIM:616570
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul... ORPHA:174
Endocrine-Cerebroosteodysplasia
Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Thick upper lip vermilion, Fibular bow... OMIM:612651
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Cleft upper lip, Preaxial polydactyly, Hamartoma of ton... OMIM:613091
Oculocerebrocutaneous Syndrome
Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Oro... ORPHA:1647
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Anal atresia, Syndactyly, Abse... OMIM:607323
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split foot, Split hand, Cleft palate OMIM:183700
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Retinal coloboma, Hamartoma of tongue, Occip... OMIM:616546
Schisis Association
Unilateral cleft lip, Micromelia, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal at... ORPHA:63862
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, P... OMIM:611561
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Polydactyly OMIM:615991
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Bardet-Biedl Syndrome 7
Clinodactyly, Narrow mouth, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Trisomy 13
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Long p... ORPHA:3378
Isolated Dandy-Walker Malformation
Encephalocele, Cleft palate ORPHA:217
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, High palate, Accessory oral frenulum, Syndactyly, Preaxial hand polyd... OMIM:252100
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... OMIM:607361
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation, Non-midline cleft of the upper lip ORPHA:1995
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Congenital Vertical Talus
Myelomeningocele, Rocker bottom foot, Equinus calcaneus ORPHA:178382
Joubert Syndrome 16
Encephalocele, Retinal dystrophy, Polydactyly OMIM:614465
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger, High palate, Cleft pa... ORPHA:376
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Bardet-Biedl Syndrome 10
Polydactyly, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Broad thumb, Lip pit, Camptodactyly of finger, Bilateral single transverse palmar ... ORPHA:1236
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial... OMIM:614815
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Hypop... OMIM:616300
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Accessory oral fren... OMIM:258860
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Orofacial cleft, Large hands, Preaxial hand polydactyly ORPHA:85287
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Posta... OMIM:614500
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ... ORPHA:1106
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Sandal gap, Clinodactyly of the 5th finger, Abnormality of retinal pigmentation ORPHA:2515
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro... OMIM:175700
Mosaic Trisomy 9
Tessier cleft, Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Intestinal malrot... ORPHA:99776
3Mc Syndrome 3
Tessier cleft, Clinodactyly, Cleft upper lip, Preaxial polydactyly, Radioulnar synostosis, Cleft ... OMIM:248340
Multiple Epiphyseal Dysplasia Type 4
Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Talipes eq... ORPHA:93307
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Abnormal metacarpal morphology, Abnormal morphology of ulna ORPHA:2233
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the radius, Microglossia, Oligodactyly, Abnormality of the wrist, Narrow mo... ORPHA:1307
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Anal atresia... OMIM:146510
Parietal Foramina 1
Cleft palate, Encephalocele, Cleft upper lip OMIM:168500
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Polydactyly, Retinal degeneration, Brachydactyly, Rod-cone dystroph... OMIM:615982
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar de... OMIM:614175
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ... OMIM:602418
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial polydactyly, Bilateral tali... OMIM:618142
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Meningocele, ... OMIM:611134
Kondoh Syndrome
Thin upper lip vermilion, Interphalangeal joint contracture of finger, Long philtrum, Preaxial ha... OMIM:606242
Brachydactyly-Preaxial Hallux Varus Syndrome
Broad thumb, Preaxial hand polydactyly, Radial club hand, Abnormal palate morphology, Brachydacty... ORPHA:1278
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:2631
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmia, High palate, Proxima... ORPHA:139471
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... OMIM:603546
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Talipes equinovarus, Absent radius, Microphthalmia,... OMIM:263650
Blepharocheilodontic Syndrome 1
Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly, Anal atresia, Neu... OMIM:119580
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... ORPHA:52056
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Short toe, Downturned corner... ORPHA:1327
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Microglossia, Retinal coloboma, Campto... ORPHA:2839
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Microphthalmia, Syndromic 8
Cleft upper lip, Split foot, Orofacial cleft, Microphthalmia, Widely-spaced maxillary central inc... OMIM:601349
Isolated Hemihyperplasia
Myelomeningocele, Abnormality of the dentition ORPHA:2128
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Abnormality of retinal pigmentation, Abnormal palate morphology, Down-sloping shou... ORPHA:1390
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Retinal pigment epithelial m... OMIM:617102
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Small hand, Hypopigmentation of the skin, Narrow palm, Hypopigmentation of... ORPHA:177910
Enlarged Parietal Foramina
Cleft lip, Broad thumb, Occipital encephalocele, Myelomeningocele, Short clavicles, Cleft palate ORPHA:60015
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Accessory oral frenulum, Preaxial han... OMIM:277170
Diaphanospondylodysostosis
Myelomeningocele, Narrow pelvis bone, Cleft palate ORPHA:66637
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation, Encephalocele ORPHA:65
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, Encephalocele, Split hand, ... ORPHA:2117
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Short 5th metacarpal, Abnormality of retinal pigmentation, Oligodon... ORPHA:1264
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central r... ORPHA:506353
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermilion border, Shor... ORPHA:411986
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Trisomy 1Q
Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Narrow mouth, Anophthalmia, A... ORPHA:261344
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Tracheoesophageal fistula, Microphthalmia, Foot polydactyly, Shor... ORPHA:268249
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft of the upper lip, Tooth agenesis, Bilateral cleft palate, Meningocele, Hip disl... ORPHA:2003
Unilateral Ocular Duplication
Median cleft upper lip, Midline facial cleft, Encephalocele, Cleft palate ORPHA:3374
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg... ORPHA:1856
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Micromelia, Encephalocele, Aplasia/Hypoplasia of the thumb,... ORPHA:1908
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Abnormal retinal morphology, Preaxial polydactyly OMIM:614615
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Trisomy 4P
Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Radial club hand, Preaxial ... ORPHA:1738
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... ORPHA:2437
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Lobulated tongue, Finger clinodactyly, Preaxial polydactyl... ORPHA:2754
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Treacher-Collins Syndrome
Tessier cleft, Abnormality of the dentition, Branchial fistula, Cleft upper lip, Tooth agenesis, ... ORPHA:861
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth r... OMIM:600325
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Cone-shaped epiphy... OMIM:617781
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Pectoral m... ORPHA:306542
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Meningocele, Duodenal stenosis, Camptodactyly of finger ORPHA:1759
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Narrow mouth, Abn... ORPHA:363417
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact... ORPHA:3098
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Multiple Osteochondromas
Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Intestinal obstruction, Bowing ... ORPHA:321
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Hallux valgus, Cleft palate, Coxa valga, Contracture of the distal interphalangeal j... OMIM:216800
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Tooth agen... ORPHA:570
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Hammertoe OMIM:619090
Fountain Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Thick lower lip vermilion, ... ORPHA:3219
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Cleft palate OMIM:601355
Jackson-Weiss Syndrome
Toe syndactyly, Preaxial foot polydactyly, Abnormal palate morphology, Symphalangism affecting th... ORPHA:1540
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Long philtrum, Encephalocele, Anophthalmia, Solitary ... OMIM:605627
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip, Microphthalmia OMIM:120433
Stromme Syndrome
Retinal vascular tortuosity, Preaxial polydactyly, Intestinal malrotation, Jejunal atresia, Hydro... OMIM:243605
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Attenuation of retinal blood vessels, Retinal degeneration, Polydacty... OMIM:615986
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Toe syndactyly, Occipital encephalocele, Micromelia, Microglossia, Me... OMIM:241800
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E... OMIM:201250
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal metacarpal morphology, Eve... ORPHA:251014
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Long philtrum, Preaxial hand polydactyly, Encephalocele, Exenceph... ORPHA:2211
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Ectopic anus, Spina bifida, Anal atresia, Cleft palate ORPHA:2345
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase... OMIM:618761
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Phocomelia, Schinzel Type
Finger aplasia, High, narrow palate, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the ... ORPHA:2879
Limb-Mammary Syndrome
Bifid uvula, Joint contracture of the hand, Hypodontia, Hallux valgus, Split hand, Camptodactyly,... OMIM:603543
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Orofaciodigital Syndrome Xvii
High, narrow palate, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of... OMIM:617926
Joubert Syndrome 7
Genu valgum, Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Retinal dystrophy OMIM:611560
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Micromelia, Agenesi... OMIM:614091
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Anophthalmia, Solitary median maxillary central ... OMIM:147250
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Complete d... OMIM:201000
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Long philtrum, Radial club hand, Abnormal dental morphology, Abnormality of the wri... ORPHA:2878
Sirenomelia
Aplasia/Hypoplasia of the radius, Sirenomelia, Tracheoesophageal fistula, Spina bifida, Anal atresia ORPHA:3169
Curry-Jones Syndrome
Anal stenosis, Broad thumb, Lip pit, Intestinal pseudo-obstruction, Preaxial hand polydactyly, 3-... OMIM:601707
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Microgastria-Limb Reduction Defect Syndrome
Elbow dislocation, Esophagitis, Anophthalmia, Perineal fistula, Abnormal metacarpal morphology, R... ORPHA:2538
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Short distal phalanx of finger, Myelomeningocele, Epiphyseal stippling, Brachydact... ORPHA:1914
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar syn... OMIM:605282
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Inguinal hernia, Microphthalmia, High palate, Cleft palate ORPHA:1135
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Bilateral single transver... ORPHA:1120
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Camptodactyly of finger, Abnormality of retinal pigmentation, Submucous cleft hard p... ORPHA:2521
Terminal Osseous Dysplasia
Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Cam... OMIM:300244
Braddock-Carey Syndrome 2
Clinodactyly, Microphthalmia, Wide mouth, Cleft palate, Pierre-Robin sequence OMIM:619981
Acromelic Frontonasal Dysostosis
Short tibia, Cleft upper lip, Preaxial hand polydactyly, Patellar hypoplasia, Preaxial foot polyd... OMIM:603671
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Cone/cone-rod dystrophy, Bowing of the long bones, Short metacarpal, Hypoplastic... ORPHA:85167
Pseudoachondroplasia
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys... OMIM:177170
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Cleft palate, Microphthalmia OMIM:610125
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:1788
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Tarsal synostosis, Patellar... OMIM:147891
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Cleft upper lip, White foreloc... ORPHA:894
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Smooth philtrum, Hydrocephalus, Syndactyly OMIM:602501
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacar... ORPHA:2167
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ... OMIM:192350
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft pal... ORPHA:1827
Acromesomelic Dysplasia 4
Rhizomelia, Radial bowing, Short toe, Umbilical hernia, Short finger, Broad finger, Prominent del... OMIM:619636
Bardet-Biedl Syndrome 16
Polydactyly, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atresia, Anencephaly ORPHA:63260
Pelger-Huet Anomaly
Abnormality of the dentition, Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Sho... OMIM:169400
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus ORPHA:397951
Arthrogryposis, Distal, Type 5
Clinodactyly, Abnormality of retinal pigmentation, Arachnodactyly, Limited wrist extension, Decre... OMIM:108145
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Retinal degenera... OMIM:615994
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Trisomy 8Q
Camptodactyly of finger, Myelomeningocele, Deep palmar crease, Abnormal oral frenulum morphology,... ORPHA:1752
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long philtrum, Preaxial ... ORPHA:1988
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Everted lower lip vermilion, Camptodactyly of... ORPHA:1466
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Triphalangeal thumb, Short mandibular rami, Non-midline cleft of the upper lip, ... OMIM:141400
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t... OMIM:271700
Lambotte Syndrome
Preaxial foot polydactyly, Semilobar holoprosencephaly, Narrow mouth OMIM:245552
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Inguinal hernia, Anophtha... ORPHA:2250
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Microphthalmia, Submucous cleft hard palat... ORPHA:2712
Orofaciodigital Syndrome Xiv
Cleft lip, Occipital encephalocele, Broad hallux, Optic disc coloboma, Retinal coloboma, Preaxial... OMIM:615948
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Abnormality of retinal pigmentation, Brachydactyly, Clinodactyly ... ORPHA:2163
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Narrow mouth, Limited elbow extension, Irregular epiphyses of the metacar... OMIM:614078
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Bardet-Biedl Syndrome 22
Macular hypopigmentation, Postaxial foot polydactyly, Rod-cone dystrophy, Polydactyly OMIM:617119
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Marshall Syndrome
Radial bowing, Thick upper lip vermilion, Retinal detachment, Small proximal tibial epiphyses, Sm... OMIM:154780
Triploidy
Finger syndactyly, Intestinal malrotation, Narrow mouth, Hydrocephalus, Macroglossia, Meningocele... ORPHA:3376
Acrofacial Dysostosis, Catania Type
Carious teeth, Single transverse palmar crease, Brachydactyly, Spina bifida occulta, Cleft palate... OMIM:101805
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Micromelia, Camptodactyly of finger, Halberd-shaped pelvis,... ORPHA:2635
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Short hallux, Dislocated radial head, H... OMIM:311300
3P25.3 Microdeletion Syndrome
High, narrow palate, Broad thumb, Downturned corners of mouth, Broad hallux, Overlapping toe, Thi... ORPHA:435638
Joubert Syndrome 14
Optic atrophy, Open mouth, Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Shor... OMIM:614424
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Micromelia, Broad long bones, Encephalocele, Bowing of the long bo... OMIM:224400
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Walker-Warburg Syndrome
Bifid uvula, Anophthalmia, Submucous cleft hard palate, Metatarsus valgus, Microphthalmia, Cleft ... ORPHA:899
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma, Umbilical hernia ORPHA:2196
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Ulnar deviation of finger, Long philtrum, Umbilical hernia, Camptodactyly of... ORPHA:1101
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Nail-Patella Syndrome
Triceps aplasia, Elongated radius, Patellar hypoplasia, Cleft upper lip, Hypoplastic radial head,... OMIM:161200
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Alg3-Cdg
Hypopigmentation of the skin, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macrog... ORPHA:79321
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Clinodactyly, Genu valgum, Delayed pubic bone ossification, Inguinal hernia, Metaphyseal dappling... OMIM:184250
Juvenile Paget Disease
Optic atrophy, Abnormality of the dentition, Coarse metaphyseal trabecularization, Melanocytic ne... ORPHA:2801
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ... ORPHA:2481
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Polydactyly, Clinodactyly of the 5th finger, High palate, Upper limb asymmetry ORPHA:231140
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Broad first metatarsal... ORPHA:2751
Atelosteogenesis, Type I
Rhizomelia, Radial bowing, Elbow dislocation, Short finger, Fibular aplasia, Encephalocele, Tibia... OMIM:108720
Isolated Arrhinia
Tessier cleft, Microphthalmia ORPHA:1134
Fraser Syndrome 1
Tessier cleft, Dental malocclusion, Dental crowding, Bilateral microphthalmos, Cleft upper lip, M... OMIM:219000
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microglossia, Short tibia, Short thumb, Sandal gap, Radial club hand, Narrow mo... ORPHA:1972
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Inguinal hernia, Polydactyly, Triangular mouth, ... OMIM:607131
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
15Q24 Microdeletion Syndrome
Abnormality of the dentition, Small hand, Clinodactyly, Long philtrum, Thick lower lip vermilion,... ORPHA:94065
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Small placenta, Intrauterine growth retardation, Inguinal hernia,... ORPHA:397590
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Retinitis Pigmentosa 6
Immotile cilia, Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Widely spaced teeth, Attenuation of retinal blood vessels, Bone spicule pigm... OMIM:616108
Cockayne Syndrome Type 2
Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of the primary teeth, An... ORPHA:90322
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Pigmentary retinopathy, Brachydactyly, Rod-cone dystrophy OMIM:600151
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... OMIM:615503
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen... OMIM:251270
Retinitis Pigmentosa 51
Macular degeneration, Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentatio... OMIM:613464
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Median cleft upper lip, Abnormal morphology of the radius, Holoprosencephaly, C... ORPHA:2165
Dysspondyloenchondromatosis
Genu valgum, Abnormal ulnar metaphysis morphology, Abnormal fibula morphology, Metaphyseal enchon... ORPHA:85198
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo... ORPHA:404440
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy, Abnormality of the hand, Polydactyly OMIM:245800
Nephronophthisis 15
Polydactyly, Retinal degeneration OMIM:614845
Focal Dermal Hypoplasia
Toe syndactyly, Anophthalmia, Microphthalmia, Foot polydactyly, Short metacarpal, Myelomeningocel... OMIM:305600
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Wildervanck Syndrome
Meningocele, Pseudopapilledema ORPHA:3456
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip, Absent radius OMIM:179400
Split-Hand/Foot Malformation 3
Narrow mouth, Split hand, Camptodactyly, High palate, Cleft palate OMIM:246560
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip, Microphthalmia OMIM:614402
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac... ORPHA:2919
Senior-Loken Syndrome
Cone-shaped epiphysis, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Poland Syndrome
Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Aplasia o... ORPHA:2911
Frontonasal Dysplasia 2
Conical tooth, Widely spaced teeth, Intrauterine growth retardation, Tessier number 13 facial cle... OMIM:613451
Aase-Smith Syndrome I
Slender finger, Open mouth, Talipes equinovarus, Hydrocephalus, Cleft palate OMIM:147800
Rhombencephalosynapsis
Finger syndactyly, Narrow mouth, Polydactyly, Aganglionic megacolon, Tracheoesophageal fistula, E... ORPHA:59315
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru... ORPHA:3320
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Microphthalmia, Cleft palate ORPHA:261272
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Areas of hypopigmentation and hyperpigmentation that do no... OMIM:210720
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Myelomeningocele, R... ORPHA:2876
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Multiple Sulfatase Deficiency
Optic atrophy, Broad thumb, Abnormality of retinal pigmentation, Smooth philtrum, Hydrocephalus, ... ORPHA:585
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Hypopigmented skin patches, Finger syndactyly, Apl... ORPHA:84
Lowry-Wood Syndrome
Pigmentary retinopathy, Shallow acetabular fossae, Squared iliac bones, Elbow flexion contracture... OMIM:226960
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Dental crowding, Cleft upper lip, Umbilical hernia, Abnormal dental morph... OMIM:612582
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly OMIM:235750
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Orofaciodigital Syndrome X
Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa... OMIM:165590
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Suleiman-El-Hattab Syndrome
Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Clinodactyly, Inguinal her... OMIM:618950
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Dental crowding, Downturned corners of mouth, Long philtrum, Sand... OMIM:615761
Intellectual Developmental Disorder, Autosomal Dominant 72
Thin upper lip vermilion, Smooth philtrum, Broad palm, Spina bifida OMIM:620439
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Limited elbow extension, Trident ha... OMIM:100800
Curry-Jones Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Hypopigmented skin patches, Optic disc coloboma, ... ORPHA:1553
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hydrocephalus ORPHA:858
Neu-Laxova Syndrome 2
Toe syndactyly, Finger syndactyly, Spina bifida, High palate, Rocker bottom foot, Cleft palate OMIM:616038
Kniest Dysplasia
Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Flared metaphysis, Umbilical ... OMIM:156550
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Cousin Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Pai Syndrome
Bifid uvula, Encephalocele, Median cleft upper lip, Abnormal oral frenulum morphology, Cleft palate ORPHA:1993
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Limited ... ORPHA:175
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Cone/cone-rod dystrophy, Postaxial polyda... OMIM:615996
Retinitis Pigmentosa 54
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613428
Lowry-Wood Syndrome
Epiphyseal dysplasia, Abnormal epiphysis morphology, Elbow dislocation, Irregular epiphyses, Abno... ORPHA:1824
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Muscle-Eye-Brain Disease
Optic atrophy, Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Thin upp... OMIM:174300
Say Syndrome
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger OMIM:181180
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Cleft palate ORPHA:2736
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Cohen Syndrome
Finger syndactyly, Genu valgum, Open mouth, Narrow palm, Arachnodactyly, High, narrow palate, Cho... ORPHA:193
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Coffin-Lowry Syndrome
Open mouth, Everted lower lip vermilion, Large hands, High palate, Short metacarpal, Hypodontia, ... ORPHA:192
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Bifid uvula, Vitreoretinopathy, Delayed pubic bone ossification, Limited elb... OMIM:183900
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda... ORPHA:440354
Houge-Janssens Syndrome 2
Broad hallux, Deviation of the 5th finger, Open mouth, Tented upper lip vermilion, Postaxial poly... OMIM:616362
Caudal Duplication
Myelomeningocele, Intestinal duplication, Spina bifida ORPHA:1756
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Long philtrum, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Carpenter Syndrome 2
Broad thumb, Carious teeth, Cutaneous finger syndactyly, Talipes equinovarus, High palate, High, ... OMIM:614976
Trisomy 18
Narrow palate, Deviation of finger, Non-midline cleft of the upper lip, Camptodactyly of finger, ... ORPHA:3380
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Carpal synostosis, Abnormality of the wrist, Tarsal synostosis, Cle... ORPHA:2010
Ring Chromosome 14 Syndrome
Pigmentary retinopathy, High palate OMIM:616606
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla... ORPHA:989
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Meckel Syndrome
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Furrowed... ORPHA:564
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Abnormal pelvis bone ossification, Long philtrum, Cleft upper lip, Preaxial hand p... ORPHA:93271
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Meningocele, Glossoptosis, Chorioretinal coloboma ORPHA:2031
Vacterl With Hydrocephalus
Intrauterine growth retardation, Inguinal hernia, Anophthalmia, Tracheoesophageal fistula, Esopha... ORPHA:3412
Retinitis Pigmentosa 89
Retinal thinning, Postaxial polydactyly, Rod-cone dystrophy, Hyperautofluorescent retinal lesion,... OMIM:618955
Cardioacrofacial Dysplasia 1
Conical tooth, Diastema, Genu valgum, Postaxial polydactyly, Limb undergrowth, Short philtrum, Ac... OMIM:619142
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anteriorly placed anus, Anophthalmia, Omphalocele, Microphthalmia OMIM:248450
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Arac... OMIM:613776
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Single transverse palmar cre... OMIM:614701
Kyphomelic Dysplasia
Radial bowing, Micromelia, Flared metaphysis, Cleft upper lip, Dumbbell-shaped humerus, Femoral b... OMIM:211350
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Chromosome 3Pter-P25 Deletion Syndrome
Downturned corners of mouth, Long philtrum, Intrauterine growth retardation, Overlapping toe, Thi... OMIM:613792
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Short hard palate, Spina bifida, Clinodactyly of the 5th finge... ORPHA:1393
Cohen Syndrome
High, narrow palate, Optic atrophy, Macrodontia of permanent maxillary central incisor, Bull's ey... OMIM:216550
Retinitis Pigmentosa 7
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... OMIM:608133
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Abnormality of the dentition, Broad thumb, Dental malocclusion, C... OMIM:616331
Martsolf Syndrome 1
Tooth malposition, Broad femoral neck, Short toe, Slender ulna, Long philtrum, Avascular necrosis... OMIM:212720
Tetraploidy
Radial club hand, Intrauterine growth retardation, Aplasia/Hypoplasia affecting the eye, Short ph... ORPHA:3305
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Fibular hypoplasi... OMIM:617925
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Intestinal ma... ORPHA:93259
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Joubert Syndrome 39