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Gene: Cdk20 MGI:2145349

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Gene Summary

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

Order Alleles

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
abnormal body wall morphology Cdk20em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Cdk20em1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo size Cdk20em1(IMPC)Bay HOM E18.5 0.00
polydactyly Cdk20em1(IMPC)Bay HOM E18.5 0.00
anophthalmia Cdk20em1(IMPC)Bay HOM E18.5 0.00
cleft palate Cdk20em1(IMPC)Bay HOM E18.5 0.00
abnormal facial morphology 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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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

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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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
Postaxial polydactyly, Occipital encephalocele, Joint contracture of the 5th finger, Retinal dyst... OMIM:619562
Radial Aplasia, X-Linked
Anal atresia, Hydrocephalus, Absent radius OMIM:312190
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn... ORPHA:949
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... OMIM:605432
Cardiofaciocutaneous Syndrome
Optic atrophy, Palmoplantar keratoderma, Long philtrum, Multiple lentigines, Generalized hyperpig... ORPHA:1340
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Narrow pelvis bone, Long philtrum, Femoral bowing, Humeroradial synostosis, Ulnar bowing, Arachno... OMIM:207410
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Holoprosencephaly 11
Cleft lip, Holoprosencephaly, Cleft palate OMIM:614226
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Optic nerve aplasia, Short 5th me... ORPHA:264200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Bowing ... OMIM:210710
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Abnormal metacarpal morphology, Hypo... ORPHA:1452
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia ORPHA:2717
Iniencephaly
Rhizomelia, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Narrow mouth, Encephalocele,... ORPHA:63259
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Toe syndactyly, Short tibia, Retinal coloboma, Median cleft upper l... OMIM:258865
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Elbow dislocation, Radial bowing, Sandal gap, Ti... OMIM:108721
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Tented upper lip vermilion, Retinopathy, Polydactyly, Thin upper... ORPHA:313781
Van Den Ende-Gupta Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Narrow mouth,... OMIM:600920
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue, Abnormality of retinal pigmentation ORPHA:2743
Fliedner-Zweier Syndrome
Long philtrum, Hallux valgus, Anal atresia, Tracheoesophageal fistula, High palate, Meningocele OMIM:620511
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... ORPHA:887
Holoprosencephaly
Spinal dysraphism, Tooth agenesis, Branchial anomaly, Encephalocele, Anophthalmia, Median cleft p... ORPHA:2162
Microphthalmia, Syndromic 2
Hand clenching, Anophthalmia, Contracture of the proximal interphalangeal joint of the 2nd toe, T... OMIM:300166
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Encephalocele, Orofacial cleft, Hydr... ORPHA:1335
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Long philtrum, Camptodactyly of finger, Umbilical hernia, Spina bifida occulta... ORPHA:2311
Isotretinoin Syndrome
Spina bifida occulta, Cleft palate ORPHA:2305
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Short hallux, Non-midline cleft o... ORPHA:2710
Multiple Synostoses Syndrome 1
Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha... OMIM:186500
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, High palate, Syndactyly, Myelomeningocele, Hamartoma ... OMIM:311200
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Abnormality of the dentition, Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Oculoauriculovertebral Spectrum With Radial Defects
Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Orofacial cleft, Aplasia/Hypoplasia a... ORPHA:2549
Matthew-Wood Syndrome
Intrauterine growth retardation, Anophthalmia, Duodenal stenosis, Microphthalmia ORPHA:2470
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of retinal pigmentation... ORPHA:3019
Sjögren-Larsson Syndrome
Macular degeneration, Abnormal dental enamel morphology, Generalized hyperpigmentation, Abnormali... ORPHA:816
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Holoprosencephaly 9
Dental malocclusion, Downturned corners of mouth, Cleft upper lip, Thick lower lip vermilion, Age... OMIM:610829
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... OMIM:119100
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Delayed eruption of teeth, Umbilical hernia, Thick lower lip vermi... OMIM:309900
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... ORPHA:3429
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Trisomy 20P
Abnormality of the dentition, Finger syndactyly, Downturned corners of mouth, Preaxial hand polyd... ORPHA:261318
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Talipes equinovarus, Hydroc... OMIM:612284
Joubert Syndrome 27
Retinopathy, Thick lower lip vermilion, Polydactyly OMIM:617120
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Tibial bowing, Lower limb undergrowth, Bowing of the long ... ORPHA:3035
Chiari Malformation Type Ii
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida OMIM:207950
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Narrow mouth, Talipes equinovarus, Short hallux, Small thenar eminence, High palate,... OMIM:268305
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia, Anophthalmia, Microphthalmia ORPHA:77298
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Retinal pigment epithelial mottling, Atte... OMIM:217080
Syngap1-Related Developmental And Epileptic Encephalopathy
Narrow mouth, Postaxial polydactyly, Thin vermilion border, High palate, Wide mouth ORPHA:544254
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia... ORPHA:85166
Congenital Sialidosis Type 2
Optic atrophy, Cherry red spot of the macula, Umbilical hernia, Gingival overgrowth, Protruding t... ORPHA:93400
Waardenburg Syndrome, Type 1
Hypopigmentation of the fundus, Premature graying of hair, Myelomeningocele, Partial albinism, Wh... OMIM:193500
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Atelosteogenesis Type Ii
Elbow dislocation, Genu valgum, Bilateral cleft palate, Broad phalanx, Bilateral talipes equinova... ORPHA:56304
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Pigmentary retinopathy, Hip dislocation ORPHA:370968
Holoprosencephaly 1
Median cleft upper lip, Tessier cleft, Median cleft palate, Microphthalmia OMIM:236100
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Elbow dislocation, Radial bowing, Lateral humeral condyle aplasia, Decrea... OMIM:164900
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Pigmentary retinopathy, Rod-cone dystrophy, Syndactyly OMIM:605231
Apert Syndrome
Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta... OMIM:101200
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Micromelia, Broad long bones, Clubbing of fingers, Narrow mouth, Encephalocele,... ORPHA:1865
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyl... OMIM:119800
Steinfeld Syndrome
Bifid uvula, Retinal coloboma, Median cleft palate, Median cleft upper lip, Aplasia/Hypoplasia of... OMIM:184705
Dyschondrosteosis-Nephritis Syndrome
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Mi... ORPHA:1765
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Brachydactyly, Abnormality of retinal pigmentation ORPHA:3085
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Macrocephaly-Intellectual Disability-Autism Syndrome
Preaxial hand polydactyly, Intestinal polyposis, Lymphoid nodular hyperplasia, Foot polydactyly, ... ORPHA:210548
Acheiropody
Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Focal Dermal Hypoplasia
Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Open bite, Duodenal atresia, Upper lim... ORPHA:2092
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Hypoplastic ischia, Polydactyly OMIM:616910
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly, Retinopathy OMIM:614970
Tarp Syndrome
Rocker bottom foot, Meckel diverticulum, Clinodactyly, Intrauterine growth retardation, Single tr... OMIM:311900
Ventriculomegaly With Defects Of The Radius And Kidney
Absent thumb, Bowed forearm bones, Hydrocephalus, Absent radius, Forearm undergrowth OMIM:602200
Femoral-Facial Syndrome
Toe syndactyly, Encephalocele, Humeroradial synostosis, Limited elbow movement, Talipes equinovar... OMIM:134780
Mulibrey Nanism
Pigmentary retinopathy, Microglossia, Dental malocclusion, Dental crowding, Single transverse pal... OMIM:253250
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Amish Lethal Microcephaly
Optic atrophy, Cleft soft palate, Spina bifida ORPHA:99742
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Short long bone, Brachydactyly, Rod-cone dystrophy OMIM:615633
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Chorioretinal coloboma, Short first metatarsal, Epiphyseal stippling, Ulnar... OMIM:619135
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Schneckenbecken Dysplasia
Hypoplastic scapulae, Umbilical hernia, Advanced tarsal ossification, Limb undergrowth, Dumbbell-... OMIM:269250
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Delayed eruption of primary teeth, Abs... OMIM:149730
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Joint contracture of the hand, Attenuation of retinal bloo... OMIM:609033
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
Camurati-Engelmann Disease
Optic atrophy, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Carious ... ORPHA:1328
Duane Retraction Syndrome
Irregular hyperpigmentation, Optic disc hypoplasia, Hypopigmented skin patches, Chorioretinal col... ORPHA:233
Joubert Syndrome With Ocular Defect
Retinal coloboma, Encephalocele, Aganglionic megacolon, Hand polydactyly, Orofacial cleft, Hydroc... ORPHA:220493
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Long philtrum, Postaxial polydactyly, Brachydactyly, Omphalocele, H... OMIM:617895
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Optic disc hypoplasia, Optic disc coloboma, Ch... ORPHA:959
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly, Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigme... ORPHA:1433
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Basal Cell Nevus Syndrome 1
Palmar pits, Hamartomatous stomach polyps, Short distal phalanx of the thumb, Cleft upper lip, Po... OMIM:109400
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Shortening of all phalanges... OMIM:114290
Limb Body Wall Complex
Cleft lip, Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneo... ORPHA:2369
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Narrow mouth, Humeroradial synostosis, Talip... OMIM:251230
Microphthalmia, Syndromic 6
Bifid uvula, Microglossia, Toe syndactyly, Finger syndactyly, Thumb contracture, Anophthalmia, Si... OMIM:607932
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move... ORPHA:1826
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Radial bowing, Carpal bone hypoplasia... ORPHA:93314
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
W Syndrome
Upper lip pit, Broad uvula, Clinodactyly, Radial bowing, Elbow dislocation, Submucous cleft hard ... ORPHA:2804
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi... ORPHA:897
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormal palate morphology, Abnormality of retinal pigmentation, Bilateral single ... ORPHA:44
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar... ORPHA:2307
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Retinal pigment epithelial mottling, Long philtrum, Tented upper lip vermilion, Sin... OMIM:614105
Bardet-Biedl Syndrome 1
High, narrow palate, Postaxial foot polydactyly, Dental crowding, Radial deviation of finger, Hyp... OMIM:209900
Rothmund-Thomson Syndrome Type 2
Carious teeth, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, High pala... ORPHA:221016
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, El... OMIM:276820
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Rod-cone dystrophy OMIM:615985
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy, Occipital encephalocele OMIM:612291
Fraser Syndrome
Anal stenosis, Toe syndactyly, Dental malocclusion, Dental crowding, Cleft upper lip, Umbilical h... ORPHA:2052
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Frontorhiny
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Encephalocele, Basal ence... ORPHA:391474
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen OMIM:204000
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Long philtrum, Genu valgum, Arachnodactyly, Postaxial poly... OMIM:619721
Cockayne Syndrome Type 1
Abnormality of the dentition, Widely spaced primary teeth, Hypoplasia of the primary teeth, Anoph... ORPHA:90321
Senior-Loken Syndrome 9
Macular degeneration, Hypoplasia of the femoral head, Polydactyly, Rod-cone dystrophy, Retinal dy... OMIM:616629
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Blindness-Scoliosis-Arachnodactyly Syndrome
Arachnodactyly, Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Waardenburg Syndrome
Hypopigmented skin patches, Abnormal lip morphology, Premature graying of hair, Myelomeningocele,... ORPHA:3440
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Failure of eruption of permanent te... OMIM:272460
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Occipital encephalocele, Rhizomelic arm shortening, Proximal femoral metap... ORPHA:397715
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Pigmentary retinopathy, Open mouth, Hip dislocation OMIM:613156
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Clinodactyly of the 5th finger, Abnormality of retinal pigmentation ORPHA:1173
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Bilateral cleft palate, Radioulnar synos... OMIM:614900
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Abnormality of retinal pigmentation ORPHA:1496
Baller-Gerold Syndrome
Carpal synostosis, Narrow mouth, Patellar aplasia, Perineal fistula, Limited elbow movement, Apha... OMIM:218600
Cloacal Exstrophy
Intestinal duplication, Myelomeningocele, Abnormal tibia morphology, Intestinal malrotation, Tali... ORPHA:93929
Pfeiffer Syndrome Type 3
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Intestinal malrotation, Hallux varus,... ORPHA:93260
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal pelvis bone morphology, Abnormal femur morphology, Large cafe... ORPHA:249
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna OMIM:107900
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Branchial cyst, Osteolytic defects of the dist... ORPHA:50815
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Dis... OMIM:268310
Joubert Syndrome 1
Macroglossia, Postaxial foot polydactyly, Clinodactyly, Chorioretinal coloboma, Optic disc colobo... OMIM:213300
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Retinitis Pigmentosa 2
Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c... OMIM:312600
Lathosterolosis
Toe syndactyly, Postaxial foot polydactyly, Downturned corners of mouth, Long philtrum, Gingival ... ORPHA:46059
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Delayed eruption of teeth, Thick upper lip vermilion, Intrauterine... OMIM:247200
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Abnormality of the wrist, Absent hand, P... ORPHA:3138
Charge Syndrome
Bifid femur, Delayed eruption of teeth, Cleft upper lip, Umbilical hernia, Abnormal tibia morphol... ORPHA:138
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Jalili Syndrome
Optic atrophy, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Amelogenes... ORPHA:1873
Orofaciodigital Syndrome Type 1
Finger syndactyly, Open bite, Foot polydactyly, High palate, Tarsal synostosis, Accessory oral fr... ORPHA:2750
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Hand polydactyly, Multiple cafe-au-lait spots, Everted ... ORPHA:2316
3Q29 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Ectopic... ORPHA:251038
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short 5th finger, Broad thumb, Broad hallux, Long philtrum, Retinal coloboma, Preaxial hand polyd... ORPHA:508498
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d... OMIM:142900
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Bilateral talipes equinovarus, Men... OMIM:600145
Acromesomelic Dysplasia 1
Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of... OMIM:602875
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Natal tooth, Slender long bone, Optic disc coloboma, Choriore... OMIM:234100
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Sandal gap, Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnor... ORPHA:2715
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Abnormality of retinal pigmentation ORPHA:290
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy, Downturned corners of mouth, Exaggerated cupid's bow, Short philtrum, Syn... OMIM:614230
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Branchio-Oculo-Facial Syndrome
Upper lip pit, Preaxial hand polydactyly, Premature graying of hair, Tooth agenesis, Microdontia,... ORPHA:1297
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial polydact... OMIM:619879
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Talipes equinovarus,... OMIM:154400
Peroxisome Biogenesis Disorder 2A (Zellweger)
Pigmentary retinopathy, Joint contracture of the hand, Optic nerve dysplasia, Single transverse p... OMIM:214110
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Mesomelia, Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial han... OMIM:263520
Joubert Syndrome 23
Polydactyly OMIM:616490
Rothmund-Thomson Syndrome Type 1
Abnormality of the dentition, Hypopigmentation of the skin, Carious teeth, Delayed eruption of te... ORPHA:221008
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy, High palate ORPHA:329336
Joubert Syndrome 37
Postaxial polydactyly, High palate, Microphthalmia OMIM:619185
Refsum Disease
Abnormal epiphysis morphology, Abnormality of retinal pigmentation, Retinopathy, Short metacarpal... ORPHA:773
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Inguinal hernia, Anophthalmia, Bilateral microphthalmos OMIM:601186
Diamond-Blackfan Anemia 21
Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Narrow mouth, Cubitus valgus, Hall... OMIM:620072
Mend Syndrome
Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, Spotty hypopigmentation, Macular... OMIM:300960
Monosomy 9Q22.3
Palmar pits, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, Retinopath... ORPHA:77301
Holoprosencephaly 4
Median cleft upper lip, Semilobar holoprosencephaly, Median cleft palate OMIM:142946
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th finger, Microglossia, Exaggerated median tongue furrow, ... OMIM:608670
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Microphthalmia, Syndromic 1
Tooth malposition, Joint contracture of the hand, Clinodactyly, Anophthalmia, Microphthalmia, Ana... OMIM:309800
Mucolipidosis Type Iv
Palmoplantar keratoderma, Abnormality of retinal pigmentation, Retinopathy, Microdontia, Everted ... ORPHA:578
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Inflammation of the large intestine, Postaxial polydactyly, Enamel hypoplasia, Hyd... OMIM:614576
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Talipes equinovarus, ... OMIM:143095
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Rothmund-Thomson Syndrome
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Hypopigmentation of the skin, Sho... ORPHA:2909
Culler-Jones Syndrome
Postaxial polydactyly, Cleft palate, Cleft upper lip OMIM:615849
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Hip dislocation OMIM:619059
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Wrist swelling, Chorioretinal atrophy... ORPHA:448237
Prolidase Deficiency
Carious teeth, Palmoplantar keratoderma, Abnormal hip bone morphology, Genu valgum, White foreloc... ORPHA:742
3Mc Syndrome
Caudal appendage, Downturned corners of mouth, Umbilical hernia, Radioulnar synostosis, Prominent... ORPHA:293843
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Au-Kline Syndrome
Bifid uvula, Dental malocclusion, Downturned corners of mouth, Overlapping toe, Open mouth, Oligo... OMIM:616580
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Intrauterine ... ORPHA:2886
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Melanocytic nevus, Abnormality of retinal pigmentation, Short hard palate, Mul... ORPHA:1969
Charge Syndrome
Unilateral microphthalmos, Anophthalmia, Absent radius, Microphthalmia, Bilateral talipes equinov... OMIM:214800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Elbow dislocation, Bilateral single transverse palmar creases, Radiou... ORPHA:199
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Heimler Syndrome 1
Amelogenesis imperfecta, Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia OMIM:234580
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Lateral Meningocele Syndrome
High, narrow palate, Dental crowding, Umbilical hernia, Smooth philtrum, High palate, Meningocele ORPHA:2789
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Bifid uvula, Short toe, Cleft upper lip, Umbilical hernia, Ulnar... OMIM:616145
Lateral Meningocele Syndrome
Dental crowding, Long philtrum, Umbilical hernia, Smooth philtrum, Hydrocephalus, High palate, Me... OMIM:130720
9Q21.13 Microdeletion Syndrome
Polydactyly, Hip dysplasia, Downturned corners of mouth, Abnormal tongue morphology ORPHA:531151
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Hydrocephalus OMIM:603387
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Natal tooth, Large placenta, B... OMIM:249000
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Townes-Brocks Syndrome 1
Broad thumb, Chorioretinal coloboma, Pseudoepiphyses of second metacarpal, Rectoperineal fistula,... OMIM:107480
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Abnormality of the dentition, Small hand, Long philtrum, Postaxial polydactyly, Smoo... OMIM:300968
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Polydactyly OMIM:616562
Neu-Laxova Syndrome
Bifid uvula, Micromelia, Thick vermilion border, Submucous cleft hard palate, Everted lower lip v... ORPHA:2671
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Branchiooculofacial Syndrome
Abnormality of the dentition, Short thumb, Cleft upper lip, Preaxial hand polydactyly, Elbow flex... OMIM:113620
Popliteal Pterygium Syndrome
Bifid uvula, Fibrous syngnathia, Cleft upper lip, Cutaneous finger syndactyly, Lower lip pit, Tal... OMIM:119500
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Perineal fistula, Rectal atresia, Anal atresi... ORPHA:2753
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Retinal pigment epithelial mottling OMIM:619517
Neu-Laxova Syndrome 1
Hydranencephaly, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, ... OMIM:256520
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Cleft palate, Preaxial hand polydactyly ORPHA:79113
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb phalanx, Trach... OMIM:227646
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly, Hydrocephalus OMIM:219730
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... OMIM:145350
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Preaxial hand polydactyly, Deep philtrum, Esophageal atresia, Proximal placement ... OMIM:610536
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Esophageal atresia, Microphthalmia, Optic nerve hypoplasia OMIM:206900
Retinitis Pigmentosa 83
Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema... OMIM:618173
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Foot polydactyly, Median cleft upper lip, Aplasia/Hypoplasia of the thumb, Orofacial cleft, Hypop... ORPHA:3186
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Median cleft upper lip, Talipes equinovarus, D... OMIM:236680
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali... OMIM:605549
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Jacobsen Syndrome
Toe clinodactyly, Toe syndactyly, Finger syndactyly, Short toe, Duodenal atresia, Long philtrum, ... ORPHA:2308
Vici Syndrome
Optic atrophy, Hypopigmentation of the skin, Abnormal macular morphology, Abnormality of retinal ... ORPHA:1493
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Narrow mouth, Talipes equinovarus, High palate, Dislocated r... OMIM:180849
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Talipes equinovarus, Anal atresia, Preaxial hand polydactyly OMIM:601389
Proboscis Lateralis
Long philtrum, Anophthalmia, Orofacial cleft, Agenesis of canine, Microphthalmia, High palate, Op... ORPHA:141099
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Flexion contracture of finger, Bone spicule pigmentation of the retina, R... ORPHA:88628
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Thoracoabdominal Syndrome
Cleft palate, Anencephaly, Hydrocephalus, Cleft upper lip OMIM:313850
Phakomatosis Pigmentokeratotica
Melanocytic nevus, Hemiatrophy, Spina bifida ORPHA:2874
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Macroglossia, Pigmentary retinopathy, Rocker bottom foot, Ulnar deviation of... OMIM:214100
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Senior-Loken Syndrome 8
Retinal dystrophy, Polydactyly, Rod-cone dystrophy, Macular atrophy OMIM:616307
Retinitis Pigmentosa 77
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... OMIM:617304
Oculopalatocerebral Syndrome
Cleft palate, Microphthalmia OMIM:257910
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Aicardi Syndrome
Optic atrophy, Small hand, Optic disc coloboma, Chorioretinal coloboma, Cleft upper lip, Intestin... ORPHA:50
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Kinsship Syndrome
Downturned corners of mouth, Thick lower lip vermilion, Widely spaced teeth, Ankyloglossia, Dislo... OMIM:619297
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly OMIM:263630
Aicardi Syndrome
Optic atrophy, Optic disc coloboma, Cleft upper lip, Hiatus hernia, Retinal detachment, Spina bif... OMIM:304050
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Femoral bowing, Osteosclerosis of the ulna, Bowing of the long bones... OMIM:602080
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormal chorioretinal m... ORPHA:5
Meier-Gorlin Syndrome 7
Anal stenosis, Anteriorly placed anus, Preaxial hand polydactyly, Duodenal stenosis, Narrow mouth... OMIM:617063
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral cleft lip, Median cleft palate,... OMIM:610828
Desmoid Tumor
Intestinal polyposis, Abnormality of retinal pigmentation, Intestinal obstruction ORPHA:873
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Mckusick-Kaufman Syndrome
Postaxial foot polydactyly, Finger syndactyly, Tarsal synostosis, Aganglionic megacolon, Ectopic ... ORPHA:2473
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Ankyloglossia, Genu valgum, Everted lower lip vermilion, High, narrow ... OMIM:615873
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Joubert Syndrome 3
Pigmentary retinopathy, Open mouth, Retinal dystrophy OMIM:608629
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy, Scapular winging, High palate OMIM:600462
Bent Bone Dysplasia Syndrome 2
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... OMIM:620076
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Dental crowding, Genu valgum, Abnormality of retinal pigmentation, Arachnodactyly,... ORPHA:394
Wolf-Hirschhorn Syndrome
Talipes equinovarus, Radioulnar synostosis, Short hallux, Hip dislocation, Downturned corners of ... OMIM:194190
Neurofibromatosis, Type I
Inguinal freckling, Genu valgum, Tibial pseudarthrosis, Multiple cafe-au-lait spots, Hydrocephalu... OMIM:162200
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, Thick lower lip vermilion, Single transv... ORPHA:404448
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Absent radius, Anal atresia, Short 5th finger, Hypodontia, P... OMIM:181450
Cranioectodermal Dysplasia 3
2-4 toe syndactyly, Rhizomelia, Sandal gap, Widely spaced teeth, 2-3 toe syndactyly, Postaxial po... OMIM:614099
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Bardet-Biedl Syndrome 20
Retinal vascular tortuosity, Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly... OMIM:619471
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Abnormal optic nerve morpholo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Abnormal optic nerve morpholo... ORPHA:352665
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy OMIM:256000
Arima Syndrome
Optic atrophy, Postaxial foot polydactyly, Chorioretinal coloboma, Wide mouth, Esophageal varix, ... OMIM:243910
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly ORPHA:314655
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Hydrocephalus, Pigmentary retinopathy OMIM:613154
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Thick vermilion border, Anophthalmia, Long philtrum, Microphthalmia ORPHA:2526
Werner Syndrome
Small hand, Premature graying of hair, Neoplasm of the oral cavity, White forelock, Abnormality o... ORPHA:902
Mullegama-Klein-Martinez Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long philtrum, Polydactyly, Thin... OMIM:301022
Lumbar Syndrome
Myelomeningocele, Ectopic anus, Anal atresia, Spina bifida ORPHA:83628
Cranioectodermal Dysplasia 2
Mesomelia, Rhizomelia, Clinodactyly, Widely spaced teeth, Inguinal hernia, Microdontia, Polydacty... OMIM:613610
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Aspartylglucosaminuria
Abnormality of the dentition, Carious teeth, Umbilical hernia, Gingival overgrowth, Abnormal morp... ORPHA:93
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Open mouth, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinodactyly of th... ORPHA:457284
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Broad palm, Rod-cone dystrophy OMIM:268020
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Umbilical hernia, Camptodactyly of finger, Abnormal dental morphology, Gingival ov... ORPHA:217085
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Postaxial foot polydactyly, Rod-cone dystrophy, Polydactyly OMIM:615989
Cockayne Syndrome A
Optic atrophy, Pigmentary retinopathy, Carious teeth, Square pelvis bone, Retinal pigment epithel... OMIM:216400
Micro Syndrome
Optic atrophy, Retinal coloboma, Abnormality of retinal pigmentation, High palate, Short philtrum ORPHA:2510
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Long philtrum, Tented upper lip vermilion, Single transverse palmar crease, Postax... OMIM:617527
Mucopolysaccharidosis Type 2
Optic atrophy, Umbilical hernia, Thick vermilion border, Gingival overgrowth, Retinopathy, Abnorm... ORPHA:580
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... ORPHA:791
Mucopolysaccharidosis Type 3
Optic atrophy, Pigmentary retinopathy, Abnormality of the dentition, Umbilical hernia, Avascular ... ORPHA:581
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Umbilical hernia, Camptodactyly of finger, Abnormal dental morphology, Gingival ov... ORPHA:217093
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Limited mobility of proximal interphalangeal joint OMIM:222300
Retinal Dystrophy With Or Without Macular Staphyloma
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep... OMIM:617547
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Bifid uvula, Narrow mouth, Exaggerated cupid's bow, Spina bifida, Thick vermilion border, Tapered... OMIM:619480
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic atrophy, Pigmentary retinopathy, Epiphyseal stippling, Optic nerve dysplasia, Single transv... OMIM:614866
Braddock Syndrome
Preaxial hand polydactyly ORPHA:52047
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Colonic atresia, Anteriorly placed anus, Single transverse palmar crease,... OMIM:309801
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Joubert Syndrome 21
Occipital encephalocele, Encephalocele, Anophthalmia OMIM:615636
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Wolf-Hirschhorn Syndrome
Optic atrophy, Short thumb, Abnormal lip morphology, Preaxial hand polydactyly, Cleft upper lip, ... ORPHA:280
Knobloch Syndrome 1
Occipital encephalocele, Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary a... OMIM:267750
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Neurofibromatosis Type 1
Inguinal freckling, Hypopigmented skin patches, Chorioretinal coloboma, Slender long bone, Melano... ORPHA:636
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Abnormal rectum morphology, Anophthalmia, Abnormality of the a... ORPHA:2556
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Intrauterine growth retardation OMIM:615824
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat... OMIM:120970
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Ov... ORPHA:672
Hartsfield Syndrome
Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodactyly, Cleft upper lip, Median clef... OMIM:615465
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Deep palmar crease, Hydrocephalus, Thick verm... ORPHA:505248
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Flexion contracture of finger, Palmoplantar keratoderma ORPHA:1010
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Craniofacial Microsomia 1
Occipital encephalocele, Cleft upper lip, Genu valgum, Branchial anomaly, Anophthalmia, Partial d... OMIM:164210
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Dental crowding, Furrowed tongue, Intrauterine growth retardation, ... ORPHA:769
Nijmegen Breakage Syndrome
Progressive vitiligo, Anal stenosis, Sandal gap, Retinal pigment epithelial mottling, Cleft upper... OMIM:251260
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Retinal degeneration,... ORPHA:79282
Cone-Rod Dystrophy 10
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610283
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
22Q11.2 Deletion Syndrome
Carious teeth, Hypopigmented skin patches, Narrow mouth, Arachnodactyly, Talipes equinovarus, Foo... ORPHA:567
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Short 1st metacarpal, Delayed eruption of teeth, Anteriorly place... ORPHA:798
Proteus Syndrome
Carious teeth, Finger syndactyly, Chorioretinal coloboma, Open mouth, Abnormal metacarpal morphol... ORPHA:744
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Carious teeth, Square pelvis bone, Dental malocclusion, Hy... OMIM:133540
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in upper limbs, Joint contracture of the hand, Distal upper limb muscle ... ORPHA:466768
Maternal Uniparental Disomy Of Chromosome 2
Preaxial hand polydactyly, Clinodactyly of the 5th finger, Retinal degeneration ORPHA:96179
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:300578
Usher Syndrome
Carious teeth, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Microdonti... ORPHA:886
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Abnormal metacarpal morphology, Absent radius, High palate, Syndactyly, Absent thum... OMIM:268300
Okamoto Syndrome
Anal stenosis, Abnormally large globe, Exaggerated median tongue furrow, Downturned corners of mo... ORPHA:2729
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Aplasia of the ulna OMIM:276822
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Pigmentary retinopathy, Fractures of the long bones, Bull's eye maculopathy, Retin... ORPHA:157850
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Talipes equinovarus, 2-3 finger syndactyly, Broad ... OMIM:312870
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Hypopigmentation of the skin, Fair hair, Prominent fingertip pads, Abnormal dental... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Hypopigmentation of the skin, Fair hair, Prominent fingertip pads, Abnormal dental... ORPHA:363958
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Fibular aplasia, Narrow mouth, Humeroradial synostosis, Short h... ORPHA:3404
Marfan Syndrome
High, narrow palate, Dental crowding, Open bite, Limited elbow movement, Arachnodactyly, Retinal ... ORPHA:558
Pagod Syndrome
Optic atrophy, Meningocele, Encephalocele, Spina bifida ORPHA:991
Cockayne Syndrome
Optic atrophy, Pigmentary retinopathy, Carious teeth, Retinal arteriolar constriction, Abnormal e... ORPHA:191
Degcags Syndrome
Toe syndactyly, Short thumb, Long philtrum, Preaxial hand polydactyly, Intrauterine growth retard... OMIM:619488
Combined Pituitary Hormone Deficiencies, Genetic Forms
Median cleft palate, Abnormal digit morphology, Polydactyly, Holoprosencephaly, Septo-optic dyspl... ORPHA:95494
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Aplasia of the epiglottis, Median cleft upper lip, Hypodontia, Postaxial p... OMIM:617088
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short 5th toe, 2-4 toe cutaneous syndactyly, Widely spaced teeth, Intrauterine growth retardation... ORPHA:268261
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy, Clinodactyly, Tented upper lip vermilion, Postaxial polydactyly, Triangul... OMIM:618460
Cutis Laxa, Autosomal Recessive, Type Ib
Arachnodactyly, Bowing of the long bones, Spina bifida, Long fingers, High palate, Intussusception OMIM:614437
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:617023
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Abnormality of the dentition, Tooth malposition, Small hand, Slender finger, Congenital hip dislo... ORPHA:480880
Neuromuscular Oculoauditory Syndrome
Talipes equinovarus, Wrist flexion contracture, Chorioretinal lacunae, Retinal pigment epithelial... OMIM:618733
Dyrk1A-Related Intellectual Disability Syndrome
Acromesomelia, Toe syndactyly, Intrauterine growth retardation, Polydactyly, Arachnodactyly, Hall... ORPHA:464306
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy, High palate ORPHA:502423
Loeys-Dietz Syndrome 2
Bifid uvula, Joint contracture of the hand, Umbilical hernia, Absent distal phalanges, Arachnodac... OMIM:610168
Alobar Holoprosencephaly
Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, Hydrocephalus, Hi... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, Hydrocephalus, Hi... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, Hydrocephalus, Hi... ORPHA:93924
Semilobar Holoprosencephaly
Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, Hydrocephalus, Hi... ORPHA:220386
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Narrow mouth, Hypoplastic ilia, Downturned corners of mouth, Thin upper lip vermilio... ORPHA:3455
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Abnormality of the dentition, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Short humerus, Polydactyly, Orofacial cleft, Short femur ORPHA:17
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Equinus calcaneus ORPHA:746
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Smooth philtrum, Pigmentary retinopathy, Hydrocephalus OMIM:277400
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Pigmentary retinopathy, Congenital hip dislocation, Tarsal sclerosis, Sclerosis of... ORPHA:404454
Faciocardiomelic Syndrome
Dental malocclusion, Slender long bone, Long philtrum, Hypoplastic pelvis, Polydactyly, Wide mouth OMIM:612731
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy, High palate OMIM:220110
Alstrom Syndrome
Abnormality of the dentition, Pigmentary retinopathy, Attenuation of retinal blood vessels, Polyd... OMIM:203800
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, High palate OMIM:617675
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T... OMIM:619649
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Natal tooth, Broad thumb, High palate, Syndactyly, Avascular necrosis of the capit... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Natal tooth, Broad thumb, High palate, Syndactyly, Avascular necrosis of the capit... ORPHA:353277
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Pigmentary retinopathy, Vitiligo, Enamel hypoplasia, Perifoveal ring of hyper... OMIM:240300
Choanal Atresia
Polydactyly ORPHA:137914
Cone-Rod Dystrophy 6
Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul... OMIM:601777
Neurocardiofaciodigital Syndrome
Polydactyly, Thin vermilion border, Optic disc pallor, High palate, Syndactyly OMIM:619869
Loeys-Dietz Syndrome 1
Bifid uvula, Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Eosinophilic infiltratio... OMIM:609192
Hardikar Syndrome
Pigmentary retinopathy, Unilateral cleft lip, Umbilical hernia, Intestinal malrotation, Cleft sof... OMIM:301068
Abetalipoproteinemia
Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Talipes equinovarus, Rod-con... ORPHA:14
Chédiak-Higashi Syndrome
Iris hypopigmentation, Gingival bleeding, Hypopigmentation of the skin, Periodontitis, Spotty hyp... ORPHA:167
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Pigmentary retinopathy, Optic atrophy OMIM:617282
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... OMIM:613843
Legius Syndrome
Inguinal freckling, Polydactyly, Multiple cafe-au-lait spots, Axillary freckling, Clinodactyly of... ORPHA:137605
Oeis Complex
Congenital hip dislocation, Duplicated colon, Anteriorly placed anus, Myelomeningocele, Intestina... OMIM:258040
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Townes-Brocks Syndrome
Toe clinodactyly, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Chorioretinal coloboma,... ORPHA:857
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinoblastoma, He... ORPHA:790
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Fat malabsorption, Rod-cone dystrophy ORPHA:96180
Atypical Werner Syndrome
Finger clinodactyly, Premature graying of hair, Neoplasm of the oral cavity, White forelock, Abno... ORPHA:79474
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Retinal pigment epithelial mottling, Scapular winging OMIM:607459
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Inflammation of the large intestine, Dental crowding, F... ORPHA:110
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Pigmentary retinopathy, Freckling OMIM:610651
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Genu v... OMIM:219800
Melas
Optic atrophy, Pigmentary retinopathy, Vitiligo, Intestinal pseudo-obstruction ORPHA:550
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Ramon Syndrome
Pigmentary retinopathy, Delayed eruption of teeth, Optic disc pallor, Narrow palate, Gingival fib... OMIM:266270
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:257270
Alagille Syndrome 1
Hypoplasia of the ulna, Short distal phalanx of finger, Pigmentary retinopathy, Chorioretinal atr... OMIM:118450
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Anteriorly placed anus, Carpal synostosis, Femoral bowing, Humeror... OMIM:201750
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:255210
Pearson Syndrome
Pigmentary retinopathy, Median cleft palate, Hyperpigmentation of the skin, Steatorrhea, Cafe-au-... ORPHA:699
Exstrophy-Epispadias Complex
Anal atresia, Anal stenosis, Hydrocephalus, Spina bifida ORPHA:322
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Polydactyly, Broad first metatarsal, Postaxial polydactyly, Hydrocephalus, Everted l... OMIM:619534
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Choroidal neovascularization, Macular edema, Abnormality of retinal pigmentat... ORPHA:91500
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Pigmentary retinopathy, Hyperpigmentation of the skin, Retinal degeneration OMIM:234200
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Narrow mouth OMIM:606721

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 Cdk20

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 Cdk20.

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

Title Journal IMPC Allele PubMed ID
Cell Cycle-Related Kinase (CCRK) regulates ciliogenesis and Hedgehog signaling in mice. PLoS genetics (August 2017) Cdk20tm1a(KOMP)Wtsi PMC5574612

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cdk20tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdk20tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cdk20em1(IMPC)Bay Exon Deletion Mice

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