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Gene: Pcgf3 MGI:1916837

Gene Summary

Name:

polycomb group ring finger 3

Synonyms:

RNF3A, DONG1, Rnf3, D630042K08Rik, 2310035N15Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
syndactyly	Pcgf3^em1(IMPC)Bay	HOM	E18.5	0.00
abnormal facial morphology	Pcgf3^em1(IMPC)Bay	HOM	E18.5	0.00
microphthalmia	Pcgf3^em1(IMPC)Bay	HOM	E18.5	0.00
polydactyly	Pcgf3^em1(IMPC)Bay	HOM	E18.5	0.00
abnormal tail morphology	Pcgf3^em1(IMPC)Bay	HOM	E18.5	0.00
facial cleft	Pcgf3^em1(IMPC)Bay	HOM	E18.5	0.00
cleft palate	Pcgf3^em1(IMPC)Bay	HOM	E18.5	0.00
hyperactivity	Pcgf3^em1(IMPC)Bay	HET	Early adult	2.78×10^-05
abnormal limb morphology	Pcgf3^em1(IMPC)Bay	HOM	E18.5	0.00
abnormal embryo size	Pcgf3^em1(IMPC)Bay	HOM	E18.5	0.00
preweaning lethality, complete penetrance	Pcgf3^em1(IMPC)Bay	HOM	Early adult	0.00

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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.

MicroCT E18.5

Embryo reconstruction

6 Images

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Human diseases caused by Pcgf3 mutations

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

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

Human diseases associated with Pcgf3 (0 diseases)
Human diseases predicted to be associated with Pcgf3 (972 diseases)

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

The table below shows human diseases predicted to be associated to Pcgf3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Schizophrenia 15	Hyperactivity	OMIM:613950
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Autism, Susceptibility To, X-Linked 4	Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior	OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder	OMIM:613003
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors	OMIM:618830
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft upper lip, Cleft palate, Deep palmar crease, Microphthalmia	OMIM:600251
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Fryns Microphthalmia Syndrome	Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia	OMIM:600776
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Acrofacial Dysostosis, Weyers Type	Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Facial cleft...	ORPHA:952
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali...	ORPHA:1794
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palat...	OMIM:607597
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft li...	ORPHA:1104
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Cerebrooculonasal Syndrome	Anophthalmia, Postaxial hand polydactyly, Facial cleft, High palate, Widely spaced teeth, Solitar...	ORPHA:66625
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Facial cleft, Anterior...	OMIM:601357
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p...	ORPHA:2935
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Facial cleft, Small thenar eminence, Short 5th...	OMIM:239800
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Abnormality of the dentition, Carious teeth, Small hand, Facial...	ORPHA:1786
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Mmep Syndrome	Median cleft lip, Orofacial cleft, Split foot, Triphalangeal thumb, Microphthalmia	ORPHA:3434
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Frontonasal Dysplasia 3	Microphthalmia, Facial cleft, Cleft palate	OMIM:613456
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Cleft palate, Talipes equinovarus, Microphthalmia, Intrauterine growth retard...	OMIM:616570
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate	OMIM:172880
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy...	OMIM:225280
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ...	ORPHA:3268
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Facial cleft, Cleft palate, Hand polydactyly, Talipes...	OMIM:217100
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss...	ORPHA:3104
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Clinodactyly of the 5th fi...	ORPHA:376
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly	OMIM:615984
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia	OMIM:300484
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le...	OMIM:249710
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f...	OMIM:601349
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Lip pit, Tapered finger, Facial cleft, Hypodontia, Microphthalmia, Broad...	ORPHA:1236
Frontofacionasal Dysplasia	Encephalocele, Non-midline cleft lip, Facial cleft, Cleft palate, Microphthalmia	ORPHA:1791
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Charlie M Syndrome	Finger syndactyly, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilio...	ORPHA:1406
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Cleft palate, Split foot	OMIM:183700
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia...	OMIM:206920
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um...	OMIM:615297
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
3Mc Syndrome 3	Cleft upper lip, Preaxial polydactyly, Facial cleft, Cleft palate, Radioulnar synostosis, Clinoda...	OMIM:248340
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Intestinal malrotatio...	ORPHA:99776
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly	OMIM:615982
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Optic nerve hypoplasia, Cleft upper lip, Midline facial cleft, Preaxia...	OMIM:603671
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate...	OMIM:258860
Maternal Hyperthermia-Induced Birth Defects	Cleft palate, Clinodactyly of the 5th finger, Intrauterine growth retardation, Aplasia/Hypoplasia...	ORPHA:2216
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity	ORPHA:436151
Hartsfield Syndrome	Encephalocele, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2117
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Cleft palate, Polydactyly,...	OMIM:613885
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate	ORPHA:2432
Frontonasal Dysplasia 1	Median cleft lip, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hypop...	OMIM:136760
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly	OMIM:619981
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh...	OMIM:300244
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Congenital Varicella Syndrome	Microphthalmia, Micromelia, Intrauterine growth retardation	ORPHA:291
Supernumerary Nostril	Facial cleft	ORPHA:141096
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Abnormally large globe, Widely-spaced maxillary central incisors, Parti...	ORPHA:363417
Bartsocas-Papas Syndrome 1	Hypoplastic iliac wing, Short phalanx of finger, Syndactyly, Short metacarpal, Cleft upper lip, S...	OMIM:263650
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Mycophenolate Mofetil Embryopathy	Tracheoesophageal fistula, Orofacial cleft, Facial cleft, Foot polydactyly, Short palm, Microphth...	ORPHA:268249
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Microphthalmia	ORPHA:261272
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Orofaciodigital Syndrome Xi	Cleft palate, Postaxial polydactyly	OMIM:612913
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft	OMIM:611638
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Cleft palate...	OMIM:600325
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th...	ORPHA:2631
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Pierpont Syndrome	Thin upper lip vermilion, Short toe, Broad philtrum, Deep palmar crease, Thin vermilion border, W...	ORPHA:487825
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Triangular mouth, Genu valgum, Cutaneous syndactyly, Clinodactyl...	ORPHA:166024
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Intra...	OMIM:615665
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Temtamy Syndrome	Short toe, Thick lower lip vermilion, Genu varum, Clinodactyly of the 5th finger, Microphthalmia,...	ORPHA:1777
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Pierpont Syndrome	Short toe, Broad palm, Short foot, Broad philtrum, Deep palmar crease, Thin vermilion border, Wid...	OMIM:602342
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Facial cleft, Cleft palate, Finger clinodactyly, Pectoral muscle hypopla...	ORPHA:306542
Moebius Syndrome	Syndactyly, Brachydactyly, Abnormality of the dentition, Microphthalmia, Split hand, Abnormal pel...	OMIM:157900
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of...	ORPHA:370010
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial...	ORPHA:1553
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Palmoplantar...	ORPHA:2251
Mohr Syndrome	Syndactyly, Median cleft lip, Accessory oral frenulum, Preaxial hand polydactyly, Postaxial hand ...	OMIM:252100
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen	OMIM:602361
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio...	OMIM:617926
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ...	ORPHA:861
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,...	ORPHA:2756
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft p...	OMIM:614815
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius, Anal atresia, Narrow mouth	ORPHA:3469
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly	ORPHA:141333
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, High palate, Narrow mouth	ORPHA:2528
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior	OMIM:605899
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Bilateral cleft lip and pal...	OMIM:619339
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Eem Syndrome	Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact...	ORPHA:1897
Unilateral Ocular Duplication	Encephalocele, Midline facial cleft, Median cleft lip, Cleft palate	ORPHA:3374
Monosomy 5P	Finger syndactyly, High palate, Small hand, Intrauterine growth retardation	ORPHA:281
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior	OMIM:301107
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Wide mo...	ORPHA:1825
Acrorenal Syndrome	Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla...	ORPHA:971
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Intrauterine growth retardation	OMIM:609054
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum...	OMIM:614091
Summitt Syndrome	Syndactyly	OMIM:272350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Syndactyly, Polydactyly, Smooth philtrum	OMIM:602501
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ...	ORPHA:1106
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal c...	ORPHA:163966
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia...	OMIM:113000
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod...	OMIM:602418
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Carious teeth, Talon cusp, Dental malocclusion,...	OMIM:613684
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Hypomelanosis Of Ito	Syndactyly, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radial deviati...	OMIM:300337
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin...	ORPHA:435638
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Downturned corners of mouth, S...	ORPHA:93267
Hydrolethalus	Anophthalmia, Micromelia, Postaxial hand polydactyly, Submucous cleft hard palate, Anencephaly, G...	ORPHA:2189
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Cleft palate, High palate, Evert...	OMIM:619736
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger	ORPHA:231140
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Po...	OMIM:607361
Cofs Syndrome	Microphthalmia, Everted lower lip vermilion, Camptodactyly of finger, Intrauterine growth retarda...	ORPHA:1466
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Joubert Syndrome 10	Deep philtrum, Thick vermilion border, Postaxial polydactyly	OMIM:300804
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Cleft palate, Microphthalmia	OMIM:164180
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t...	ORPHA:1515
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Anophthalmia...	OMIM:219000
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, T...	OMIM:272440
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u...	ORPHA:163649
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s...	ORPHA:404440
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand	ORPHA:3152
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Intrau...	OMIM:300863
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ...	OMIM:147891
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Sandal gap, Tapered finger, Thin vermilion border, Long philtrum, Micropht...	ORPHA:1438
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ...	ORPHA:3098
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Talipes equinovarus, Intrauterine growth retardation	OMIM:616171
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Cl...	OMIM:611134
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Microphthalmia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft palate, Genu ...	OMIM:614078
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou...	OMIM:225060
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in...	ORPHA:88630
Septooptic Dysplasia	Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger	OMIM:182230
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Primary Ciliary Dyskinesia	Asplenia, Polysplenia	ORPHA:244
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia, Anal atresia, Intrauterine growth retardation	ORPHA:195
Nanophthalmos	Microphthalmia	ORPHA:35612
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate	OMIM:615524
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel...	ORPHA:2839
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Cleft p...	ORPHA:2994
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, High pa...	ORPHA:139471
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Cubitus valgus, Widely spaced teeth, Camptodactyly, Microdontia, Micropht...	OMIM:619694
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Thick lower lip vermilion, Genu varum, Hip dislocation, Deep palmar crease, High pala...	OMIM:619451
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma...	OMIM:277170
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ...	OMIM:615761
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, Preaxial foot ...	OMIM:614120
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Thin upper lip vermilion	OMIM:613576
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Blepharocheilodontic Syndrome 2	Tooth agenesis, Cleft lip, Conical tooth, Cutaneous syndactyly	OMIM:617681
Anencephaly 2	Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate	OMIM:619452
Pelger-Huet Anomaly	Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd...	OMIM:169400
Mosaic Trisomy 1	Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent distal interphalang...	ORPHA:1692
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal...	ORPHA:3429
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f...	ORPHA:915
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, Microphthalmia, High palate, Cleft palate	ORPHA:1135
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia, Microglossia, Microdontia	OMIM:606744
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Cholelithiasis, Chronic active hepatitis	OMIM:240300
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,...	OMIM:141400
Sandestig-Stefanova Syndrome	Rocker bottom foot, Orofacial cleft, Intrauterine growth retardation, High palate, Camptodactyly,...	OMIM:618804
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral...	ORPHA:93307
Trisomy 13	Anophthalmia, Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand...	ORPHA:3378
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe...	OMIM:613091
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo...	OMIM:618727
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Triangular mouth, Flattened epiphysis, Genu valgum, Polydac...	OMIM:607131
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl...	ORPHA:313781
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac...	OMIM:619148
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Duode...	ORPHA:2547
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt...	OMIM:619142
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Cardiofacioneurodevelopmental Syndrome	Asplenia, Abdominal situs inversus	OMIM:619123
Curry-Jones Syndrome	Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplication of thumb phalanx...	OMIM:601707
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele, Orofacial cleft	ORPHA:324416
Nephronophthisis 15	Polydactyly	OMIM:614845
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic an...	ORPHA:251038
Nanophthalmos 4	Microphthalmia	OMIM:615972
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syn...	OMIM:217085
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate...	ORPHA:544254
Warburg Micro Syndrome 1	Microphthalmia, Thin vermilion border, Overlapping toe, Narrow mouth	OMIM:600118
Split-Hand/Foot Malformation 3	Split hand, Cleft palate, High palate, Narrow mouth, Camptodactyly	OMIM:246560
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydactyly, Cleft palate, Micropht...	ORPHA:85284
2Q31.1 Microdeletion Syndrome	Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, Clinodactyly o...	ORPHA:251014
Orofaciodigital Syndrome Type 2	Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn...	ORPHA:2751
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ...	OMIM:610758
Frontonasal Dysplasia 2	Encephalocele, Tessier number 13 facial cleft, Conical tooth, Widely spaced teeth, Microphthalmia...	OMIM:613451
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodacty...	ORPHA:397590
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag...	ORPHA:2791
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Weaver Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Deep philtrum, Large hands, Talipes equin...	ORPHA:3447
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, High...	OMIM:618142
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Blepharocheilodontic Syndrome 1	Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl...	OMIM:119580
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia	OMIM:616910
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ...	OMIM:615777
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper lip, Deep philtrum,...	OMIM:612530
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous...	OMIM:613573
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Downturned corn...	OMIM:613792
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda...	OMIM:257850
Fanconi Anemia, Complementation Group S	Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Microphthalmia, Cli...	OMIM:617883
Suleiman-El-Hattab Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip vermilion, Downturned ...	OMIM:618950
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Cleft palate, Forearm undergrow...	OMIM:251230
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Kapur-Toriello Syndrome	Single transverse palmar crease, Camptodactyly of finger, Cleft upper lip, Intestinal malrotation...	OMIM:244300
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Split hand, Cleft palate, Intrauterine growth retardation, Brachyd...	ORPHA:2145
Monosomy 18P	Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodontia, Microphthal...	ORPHA:1598
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact...	OMIM:174300
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Aplasia/Hypoplasia of the tongue, Tapered finger, ...	ORPHA:193
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia	ORPHA:1997
Sweeney-Cox Syndrome	Asplenia	OMIM:617746
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine...	OMIM:200990
Isolated Arrhinia	Microphthalmia, Facial cleft	ORPHA:1134
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Overlapping toe, High, narrow palate, Cleft palate, Anteriorly placed a...	OMIM:618494
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met...	OMIM:272950
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,...	OMIM:600987
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa...	OMIM:258865
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Marden-Walker Syndrome	Arachnodactyly, High, narrow palate, Narrow mouth, Pyloric stenosis, Cleft palate, Radioulnar syn...	OMIM:248700
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Temtamy Syndrome	Dental crowding, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes equinovarus, Long p...	OMIM:218340
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Exaggerated cupid's bow, Single transverse palmar crease, Cleft lip, Deep philtrum, 2-3 toe synda...	OMIM:620098
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap, Long philtrum	OMIM:300887
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con...	OMIM:618914
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Thin upper lip vermilion, Single transverse palmar crease, Intestinal malrotation, Ve...	OMIM:614701
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Clinodactyly, Hypoplastic pubic bone, Coxa vara, Genu ...	OMIM:184250
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Open mouth, 3-4 finger syndactyly, 2-3 toe syndactyly	OMIM:600906
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp...	ORPHA:989
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Syndactyly, Enamel hypoplasia, Pyloric stenosis	OMIM:226700
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t...	ORPHA:3103
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Natal tooth, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Cleft lip, Sq...	OMIM:616300
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Carious teeth, Elbow flexion contractu...	OMIM:214150
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postax...	ORPHA:93271
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
Say Syndrome	Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger	OMIM:181180
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Hypoplasia o...	OMIM:212780
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t...	OMIM:609638
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Abnormal palate morphology	ORPHA:251046
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Downturned corners of mouth, Macro...	ORPHA:369891
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Broad hallux, Single transverse palmar crease, High palate, Short phi...	OMIM:614105
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal...	ORPHA:364577
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesoph...	ORPHA:59315
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo...	ORPHA:166119
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation	ORPHA:48431
Myoclonic-Astatic Epilepsy	Syndactyly, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro...	ORPHA:1942
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ...	OMIM:165590
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri...	OMIM:302350
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short foot, Hand polydactyly, High palate, Foot polydactyly...	ORPHA:250989
Microphthalmia, Syndromic 13	Microphthalmia, Widely-spaced incisors	OMIM:300915
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ...	OMIM:608670
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal...	ORPHA:2980
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Nance-Horan Syndrome	Supernumerary tooth, Microphthalmia, Short metacarpal, Abnormality of the dentition	ORPHA:627
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Irregular dentition, Narrow mouth, Intestinal lymphangiectasia, Camptodactyly	OMIM:616006
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Talipes equinovarus	OMIM:617255
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Intestinal malrotation	OMIM:601163
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Martsolf Syndrome 1	Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger...	OMIM:212720
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca...	ORPHA:1352
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Stevenson-Carey Syndrome	Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Hip dysplasia, Camptodactyly, M...	OMIM:611961
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper lim...	OMIM:607323
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Narrow mouth, Mi...	ORPHA:1307
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal ...	ORPHA:2475
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D...	OMIM:101600
Kury-Isidor Syndrome	Finger syndactyly, Tented upper lip vermilion, Rocker bottom foot, Proximal placement of thumb, H...	OMIM:619762
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol...	ORPHA:2754
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Clinodactyly, Arachnodactyly, Widely spaced teeth	OMIM:619092
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia	OMIM:614583
Tetraploidy	Radial club hand, Cleft palate, Short philtrum, Intrauterine growth retardation, Aplasia/Hypoplas...	ORPHA:3305
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal...	OMIM:300963
Kbg Syndrome	Thin upper lip vermilion, Macrodontia, Single transverse palmar crease, Cleft palate, Cutaneous s...	ORPHA:2332
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Tented upper lip vermilion, Overlapping toe, Single transverse palmar crease, ...	ORPHA:464738
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition...	ORPHA:284160
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ...	ORPHA:2010
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Cleft upper...	OMIM:305400
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,...	ORPHA:2788
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Frontorhiny	Encephalocele, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Basal encephalocele, C...	ORPHA:391474
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Joubert Syndrome 23	Polydactyly	OMIM:616490
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Pallister-Hall Syndrome	Syndactyly, Anal atresia, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly,...	OMIM:146510
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Small hand, Short foot, Thin vermilion border, Severe intrauterine grow...	OMIM:241410
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Triploidy	Finger syndactyly, Intestinal malrotation, Non-midline cleft lip, Meningocele, Cleft palate, Wide...	ORPHA:3376
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Oculodentodigital Dysplasia	Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 finger syndactyly, Pre...	OMIM:164200
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d...	OMIM:616331
Oliver Syndrome	Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Dental...	ORPHA:2920
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Intrauterine growth retardation	OMIM:610756
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Narrow palate, Abnormal hip bone morphology, Narrow m...	ORPHA:1323
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge...	OMIM:619721
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Long p...	OMIM:617895
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long philtrum	ORPHA:1252
Joubert Syndrome 37	Microphthalmia, High palate, Postaxial polydactyly	OMIM:619185
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth,...	OMIM:614230
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Meningocele, Cleft palate, Shor...	OMIM:614424
Histidinemia	Hyperactivity	ORPHA:2157
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist...	ORPHA:1234
Laurence-Moon Syndrome	Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases	ORPHA:2377
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Hand polydactyly, High palate, Broad thumb	OMIM:239710
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Duplication of phalanx of hallux, Orofacial cleft, Wid...	OMIM:243310
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl...	ORPHA:246
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Encephalocele, Synostosis...	ORPHA:90652
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, Intrauterine grow...	ORPHA:290
Retinitis Pigmentosa 89	Esophageal varix, Postaxial polydactyly	OMIM:618955
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Agenesis of permanent teeth, Microphthalmia, Anal atresia	OMIM:617244
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdon...	ORPHA:2728
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, 2-3 finger syn...	ORPHA:2437
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hip dysplasia, Deviation of the ...	OMIM:616362
Silver-Russell Syndrome 1	Syndactyly, Short distal phalanx of the 5th finger, Downturned corners of mouth, Clinodactyly of ...	OMIM:180860
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Cleft palate, Talipes...	ORPHA:1512
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate	ORPHA:2521
Fetal Alcohol Syndrome	Thin upper lip vermilion, Non-midline cleft lip, Cleft palate, Microdontia, Microphthalmia, Smoot...	ORPHA:1915
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to...	OMIM:311200
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Overlapping toe, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mouth, Long philtr...	OMIM:618571
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted lower...	OMIM:616920
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Short palm, Int...	ORPHA:73246
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C...	ORPHA:564
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Microdontia, Hiatus hernia, Short thumb, Hip dyspla...	OMIM:300895
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal varix, Absent...	ORPHA:974
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Ulnar bowing, Shortening of all distal phalange...	OMIM:619135
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Finger syndactyly, Abnormal dental morph...	ORPHA:2092
Subaortic Stenosis-Short Stature Syndrome	Microdontia, Microphthalmia, Bilateral single transverse palmar creases, Synostosis of carpal bones	ORPHA:3191
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ...	ORPHA:1788
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Non-midline cleft ...	ORPHA:1908
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Fu...	OMIM:616449
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Cleft upper lip, Split...	ORPHA:2008
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastria, Aplastic clavicle, Hiatus her...	ORPHA:2538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polyda...	OMIM:605627
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe	OMIM:181510
Holoprosencephaly 1	Microphthalmia, Facial cleft, Median cleft lip and palate	OMIM:236100
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, High, narrow palate, Supernumerary tooth, Small hand, Oligodontia, Unilateral ...	ORPHA:1787
Bohring-Opitz Syndrome	Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Intestinal mal...	OMIM:605039
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
3Q29 Microdeletion Syndrome	Dental crowding, Tapered finger, Abnormality of the dentition, Orofacial cleft, High palate, Shor...	ORPHA:65286
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Bile duct pro...	OMIM:249000
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, Thick lower l...	OMIM:123450
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia, Acetabu...	OMIM:201180
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad...	OMIM:305450
Joubert Syndrome 7	Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia, Intrauterine growth re...	ORPHA:2714
Trisomy 8Q	Camptodactyly of finger, Non-midline cleft lip, Myelomeningocele, Orofacial cleft, Cleft palate, ...	ORPHA:1752
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Thin upper lip vermilion, Dental crowding, Single transverse p...	ORPHA:435938
Pili Torti-Onychodysplasia Syndrome	Cleft lip, Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly	ORPHA:2890
Adams-Oliver Syndrome 6	Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly	OMIM:616589
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Skin Creases, Congenital Symmetric Circumferential, 1	Long fingers, Cleft palate, High palate, Narrow mouth, Microphthalmia, Long philtrum	OMIM:156610
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Non-...	ORPHA:2059
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia	OMIM:306955
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Joubert Syndrome 33	Syndactyly	OMIM:617767
Rapp-Hodgkin Syndrome	Syndactyly, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndactyly, Velophar...	OMIM:129400
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Thin vermilion border, Short philtrum, Clinodactyly of the...	ORPHA:3255
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Microphthalmia, Abnormality of the palmar creases, Smooth philtrum	OMIM:618652
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ...	ORPHA:158687
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Ring Chromosome 21 Syndrome	Syndactyly, Clinodactyly, Small hand, Narrow palm	ORPHA:1445
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, High palate,...	OMIM:618874
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Hip dysplasia, Abnormal tongue morphology, Polydactyly	ORPHA:531151
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental...	ORPHA:2750
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Solitary Median Maxillary Central Incisor	Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median m...	OMIM:147250
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Hamamy Syndrome	Long toe, Syndactyly, Thin upper lip vermilion, Down-sloping shoulders, Tapered finger, Long fing...	OMIM:611174
Pseudotrisomy 13 Syndrome	Encephalocele, Cleft upper lip, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot po...	OMIM:264480
Oculodentodigital Dysplasia	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu...	ORPHA:2710
Congenital Toxoplasmosis	Microphthalmia, Intrauterine growth retardation	ORPHA:858
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft upper lip, Palmar...	OMIM:109400
Adams-Oliver Syndrome 2	Microphthalmia, Absent distal phalanges, Short middle phalanx of finger, Single transverse palmar...	OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Microphthalmia	OMIM:613155
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Overlapping toe, Exaggerated cupid's bow, Intestinal malrotat...	OMIM:618316
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Clinoda...	ORPHA:1507
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, High palate, Single transverse palmar crease	OMIM:619053
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl...	ORPHA:2256
Momo Syndrome	Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi...	ORPHA:2563
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pi...	ORPHA:2886
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers, Volvulus, Gingival bleeding	ORPHA:335
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Abnormalit...	ORPHA:783
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Short hallux, Abnormality of the dentition, Abnormal metacarpa...	ORPHA:3224
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Talip...	OMIM:236500
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Sandal gap, Cleft palate, Deep palmar crease, Thin vermilion borde...	ORPHA:254346
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Abnormality of the dentition, Conical tooth, Microphthalmia, Broad philtrum, Intra...	ORPHA:228390
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Conical tooth, Cleft upper lip, S...	OMIM:263750
Ritscher-Schinzel Syndrome 1	Syndactyly, Anal atresia, Cleft palate, Intrauterine growth retardation	OMIM:220210
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Wide mouth, Thin vermilion border,...	ORPHA:217346
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h...	OMIM:619879
Trisomy 18	Camptodactyly of finger, Spina bifida, Esophageal atresia, Postaxial hand polydactyly, Non-midlin...	ORPHA:3380
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus...	ORPHA:2215
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Thin vermilion...	OMIM:614800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor...	OMIM:609053
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Cleft palate, High palate, I...	OMIM:616038
Mend Syndrome	Overlapping toe, Broad hallux, Asymmetry of the mouth, Long fingers, 2-3 toe syndactyly, Cleft pa...	ORPHA:401973
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perman...	OMIM:616894
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Dental crowding, High, narrow palate, Pierre-Robin ...	ORPHA:96182
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem...	OMIM:600920
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Prea...	OMIM:617925
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux	OMIM:263630
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Dental crowding, Single tra...	ORPHA:93932
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli...	ORPHA:1300
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Pyloric stenosis, Small hand,...	ORPHA:1001
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Larsen Syndrome	Finger syndactyly, Accessory carpal bones, Cleft palate, Abnormal epiphysis morphology, Broad dis...	ORPHA:503
Pseudoaminopterin Syndrome	Asplenia	ORPHA:221120
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Wide mouth, Hand polydactyly, Foot polydactyly	ORPHA:60040
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta	ORPHA:1514
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Phocomelia, Mi...	OMIM:184705
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, High, narrow palate...	ORPHA:3472
Stromme Syndrome	Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Preaxial polydactyly, Cleft pala...	OMIM:243605
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Mckusick-Kaufman Syndrome	Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa...	ORPHA:2473
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Bilateral single transverse palmar creases, Abnormal dental mo...	ORPHA:3253
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P...	OMIM:209900
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Cleft palat...	OMIM:247200
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Submucous c...	ORPHA:178303
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Syndactyly, Abnormality of the dentition, Broad palm, Wide mouth, Thick vermilion border, Clinoda...	OMIM:618505
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Hypoplasia...	OMIM:614099
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas, Pulmonary lymphangiectasia	OMIM:265380
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormal dental enamel morphology, Abnormality of the elbow, Hip dislocation, ...	ORPHA:1005
Walker-Warburg Syndrome	Anophthalmia, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Microphthalmia, Bifid...	ORPHA:899
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Pierre-Robin sequence, Cleft palate, Anteriorly placed a...	OMIM:217980
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab...	ORPHA:2879
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long philtrum, Microphthalmia	OMIM:152950
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Anteriorly place...	OMIM:305600
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand, Hip dislocation,...	OMIM:300968
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly, Hamartoma of tongue	ORPHA:1338
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Multiple Benign Circumferential Skin Creases On Limbs	Cleft palate, Upper limb asymmetry, Umbilical hernia, Long philtrum, Microphthalmia	ORPHA:2505
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Spondylo-Ocular Syndrome	Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens, Long philtrum	ORPHA:85194
Culler-Jones Syndrome	Cleft palate, Postaxial polydactyly, Cleft upper lip	OMIM:615849
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Protruding tongue, Gingival overgrowth, Polydactyly, Umbilical hernia	ORPHA:93400
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Aganglionic megacolon, Cleft palate	ORPHA:66629
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel diverticulum, Intr...	OMIM:616395
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Microphthalmia, Downturned corners of mouth, Narrow palate	OMIM:614222
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Multiple Pterygium Syndrome, Escobar Variant	Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Narrow mouth, Patellar ap...	OMIM:265000
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microphthalmia, Intra...	OMIM:603467
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Orofaci...	ORPHA:77301
Myhre Syndrome	Thin upper lip vermilion, Overlapping toe, Cleft lip, Short toe, Narrow mouth, 2-3 toe syndactyly...	OMIM:139210
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Postaxial hand polydactyly, Agenesis of in...	OMIM:610829
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Abnormality of the hum...	ORPHA:3186
Tetraamelia Syndrome 1	Asplenia	OMIM:273395
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro...	ORPHA:2753
Kinsship Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Thick lower lip vermilion,...	OMIM:619297
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Calcaneovalgus deformity, Finger syndactyly, Spina bifida, Cleft upper l...	OMIM:256520
Alkuraya-Kucinskas Syndrome	Overlapping toe, Cutaneous syndactyly, High palate, Talipes equinovarus, Camptodactyly, Hand clen...	OMIM:617822
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal...	OMIM:300166
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger...	ORPHA:69085
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ...	OMIM:302960
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Carious teeth, Velopharyn...	OMIM:223370
Refsum Disease	Microphthalmia, Abnormal epiphysis morphology, Short metacarpal, Hammertoe	ORPHA:773
Galloway-Mowat Syndrome 3	Arachnodactyly, Hiatus hernia, Narrow mouth, Hip dislocation, High palate, Camptodactyly, Microph...	OMIM:617729
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Abdominal situs ambiguus, Abdominal situs inversus	OMIM:270100
X-Linked Dominant Chondrodysplasia Punctata	Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, High ...	ORPHA:35173
Galloway-Mowat Syndrome 1	Hiatus hernia, Hypoplasia of the iris, Wide mouth, High palate, Talipes equinovarus, Camptodactyl...	OMIM:251300
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Narrow mouth	OMIM:614833
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly	ORPHA:314655
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia	OMIM:619318
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Leukopenia...	ORPHA:227990
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Narrow philtrum, Palmoplantar hyperkeratosis, Tibial bo...	OMIM:601812
Mend Syndrome	Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, Macular hypoplasia,...	OMIM:300960
3C Syndrome	Finger syndactyly, Intestinal malrotation, High, narrow palate, Orofacial cleft, Cleft palate, Ha...	ORPHA:7
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Wide mouth, Thick vermilion bo...	ORPHA:1517
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Abnormality of the hand, Spina bifida, High, narrow palate...	OMIM:234100
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Spina bifida, Abnormality of the dentition, Preaxial ...	ORPHA:261318
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate	OMIM:610125
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Camptodactyly of finger, Meningocele, Cleft palate, Long philtrum, Umbilical h...	ORPHA:2311
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Orofacial cleft, Aplasia/Hypoplasia involving the pelvis, Narrow mouth, Mi...	ORPHA:3301
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Abnormally large globe	OMIM:603387
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:464
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Orofacial cleft,...	ORPHA:2166
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Congenital hip dislocation, Short thumb, Supernumerary tooth, Small ha...	OMIM:268400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Leukopenia...	ORPHA:227982
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,...	OMIM:615873
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Umbilical hernia, High palate	OMIM:614520
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thin upper lip vermilion, Broad hallux, Overlapping toe, Abnormality of the hand, Optic nerve hyp...	ORPHA:508498
Fanconi Anemia	Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5th finger, Fing...	ORPHA:84
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Esophageal varix, Hip dysplasia, Inflammation of the large intestine, Intr...	OMIM:614576
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Metatarsus adductus, Deep philtrum, Dental malocclusion, Broa...	OMIM:227330
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Anal stenosis, Optic nerve hypoplasia, Narrow mouth, 2-3 toe cutaneous ...	OMIM:620029
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongu...	OMIM:616546
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Open bite, Narr...	ORPHA:794
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o...	OMIM:151050
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Syndactyly, Small hand	OMIM:616489
Vacterl/Vater Association	Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Non-midline cleft lip, Ane...	ORPHA:887
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hip dysplasia, Intrauterine growth retardation	ORPHA:494344
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atresia, Cleft palat...	OMIM:115470
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Clinodactyly	OMIM:618087
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Polyd...	OMIM:301022
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Mi...	ORPHA:87
Warburg Micro Syndrome 2	Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe	OMIM:614225
Adnp Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe...	ORPHA:404448
Ring Chromosome 12 Syndrome	Syndactyly, High, narrow palate, Abnormal 5th finger morphology, Symphalangism of the thumb, Clin...	ORPHA:1439
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Tapered finger, Microdontia, Long fingers, Narrow mouth, Carious teeth,...	OMIM:616734
Atelis Syndrome 2	Single transverse palmar crease, Diastema, Thick lower lip vermilion, Downturned corners of mouth...	OMIM:620185
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Dental malocclusion, Cl...	OMIM:616580
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bilater...	OMIM:614083
Joubert Syndrome 2	Encephalocele, Postaxial hand polydactyly, Postaxial foot polydactyly, High palate, Microphthalmia	OMIM:608091
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly	OMIM:615824
Fryns Syndrome	Meckel diverticulum, Tented upper lip vermilion, Aganglionic megacolon, Single transverse palmar ...	OMIM:229850
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Microphthalmia	OMIM:617306
Kbg Syndrome	Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease, Cutaneous s...	OMIM:148050
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda...	OMIM:617527
X Small Rings	Thin upper lip vermilion, Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergro...	ORPHA:96201
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Broad hallux, Arachnodactyly, Cubitus valgus, Dental malocclusion, High palate, Short finger, Mic...	OMIM:601552
Congenital Muscular Dystrophy With Cerebellar Involvement	Macroglossia, Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Autosomal Dominant Robinow Syndrome	Micromelia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of mou...	ORPHA:3107
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Robinow Syndrome	Dental crowding, Orofacial cleft, Syndactyly, Persistence of primary teeth, Mesomelic arm shorten...	ORPHA:97360
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Deep philtrum, Hip di...	OMIM:613884
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Downturned corn...	ORPHA:264200
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Small hand, ...	ORPHA:2108
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ...	ORPHA:2250
Rodrigues Blindness	Microphthalmia, Tooth malposition	OMIM:268320
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Open bite, Deep philtrum, Short foot, Wide mouth, High...	ORPHA:1974
Sclerosteosis 1	Syndactyly, 2-3 finger syndactyly, Dental malocclusion, Deviation of finger, Abnormal pelvic gird...	OMIM:269500
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Advanced eruption of teeth, Finger syndactyly, Rhizomelia, Abnormal ...	ORPHA:818
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Esophageal atresia, Hypoplasia of the radius, Hip dislocation, Trache...	ORPHA:3412
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, High, narrow palate, High palate, Hypoplastic i...	OMIM:180849
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, Abnormal metacarpal morp...	ORPHA:2658
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Umbilical hernia, High palate, Cubitus valgus	OMIM:104350
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d...	ORPHA:2907
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o...	OMIM:615789
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Postaxial hand polydactyly, Cleft palate, Broad philtrum, Fused teeth, Po...	OMIM:613610
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ...	OMIM:614976
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia	OMIM:613150
Pallister-Hall Syndrome	Bifid uvula, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cleft lip, Umbilical ...	ORPHA:672
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Microphthalmi...	ORPHA:1587
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Postaxia...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Postaxia...	ORPHA:352665
Monosomy 9P	Proximal placement of thumb, Abnormality of the dentition, Abnormality of the tarsal bones, Narro...	ORPHA:261112
Rabson-Mendenhall Syndrome	Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia...	ORPHA:769
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho...	ORPHA:1896
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Cleft lip, Furrowed tongue, Hip dysplasia, High palate, Broad alveolar ridges, Clinod...	OMIM:616975
Adams-Oliver Syndrome 5	Syndactyly, Umbilical hernia, Esophageal varix, Brachydactyly	OMIM:616028
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Occipital meningocele, Bilateral cleft lip, Bilateral m...	OMIM:610828
Holoprosencephaly	Encephalocele, Anophthalmia, Median cleft lip, Bilateral cleft lip, Median cleft lip and palate, ...	ORPHA:2162
Prader-Willi Syndrome	Syndactyly, Thin upper lip vermilion, Carious teeth, Acromicria, Small hand, Narrow palm, Genu va...	OMIM:176270
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormality of the tongue, Orofacial cleft, Symphalan...	ORPHA:2990
Fraser Syndrome 2	Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Narrow mouth, Microphthalmia, Anal ...	OMIM:617666
Timothy Syndrome	Microdontia, Thin upper lip vermilion, Cutaneous syndactyly	OMIM:601005
Methylcobalamin Deficiency Type Cble	Syndactyly, Clinodactyly, Intrauterine growth retardation	ORPHA:2169
Kapur-Toriello Syndrome	Microphthalmia, Intestinal malrotation, Orofacial cleft	ORPHA:2328
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Short thumb, Large placenta, Anteriorly placed anus,...	ORPHA:1708
Warburg Micro Syndrome 4	Microphthalmia, Long philtrum, Narrow mouth	OMIM:615663
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Micro Syndrome	Microphthalmia, High palate, Short philtrum, Intrauterine growth retardation	ORPHA:2510
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Matthew-Wood Syndrome	Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis	ORPHA:2470
Hydrolethalus Syndrome 1	Median cleft lip, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx o...	OMIM:236680
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam...	ORPHA:2363
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Single transverse palmar crease, Widely spaced teeth, High palate, Microdontia, Clinodactyly of t...	OMIM:612474
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg sh...	ORPHA:397715
Cerebrofacioarticular Syndrome	Irregular dentition, Syndactyly, Anal stenosis, Narrow mouth, Anteriorly placed anus, Talipes equ...	ORPHA:314679
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Cleft upper lip, Cleft palate, Talipes equinovarus, Microphthalmia...	OMIM:100300
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta...	OMIM:119500
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb...	OMIM:227646
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Esophageal atresia, Anophthalmia, Tracheoesophageal fistula	ORPHA:77298
Fraser Syndrome	Encephalocele, Finger syndactyly, Anal stenosis, Anophthalmia, Toe syndactyly, Dental crowding, A...	ORPHA:2052
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Abnormal dental enamel morphology, Ope...	ORPHA:534
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Aicardi Syndrome	Intestinal polyposis, Cleft upper lip, Hiatus hernia, Malabsorption, Small hand, Cleft palate, Hi...	ORPHA:50
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Smooth philtrum, Long philtrum	OMIM:616430
Fanconi Anemia, Complementation Group E	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:600901
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge...	OMIM:619539
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Short philtrum, High palate, Short palm, Clinod...	OMIM:613406
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Jacobsen Syndrome	Pyloric stenosis, Intrauterine growth retardation, Macular hypoplasia, Clinodactyly of the 5th fi...	OMIM:147791
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Fanconi Anemia, Complementation Group C	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx, ...	OMIM:227645
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Unilateral brachydactyly, Wide mouth, High palate, Aplasia/Hy...	ORPHA:1521
Joubert Syndrome 39	Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup...	OMIM:617088
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Long philtrum	OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Clubbing, Thin vermilion border, High palate,...	ORPHA:96123
Adult Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Spli...	ORPHA:978
Fanconi Anemia, Complementation Group A	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:227650
Mirage Syndrome	Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Intestinal malrotation, Spina bifida, Py...	ORPHA:2308
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Stomach cancer, Cleft palate, Abnormality of the upper limb, Colon cancer, ...	ORPHA:1052
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Widely spaced te...	ORPHA:79500
Degcags Syndrome	Smooth philtrum, Syndactyly, Toe syndactyly, Jejunal atresia, Protruding tongue, Hiatus hernia, S...	OMIM:619488
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Postaxial polydactyly, Triangular mouth, Buphthalmos, Intrauterine gr...	OMIM:618460
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Pyloric stenosis, Polydactyly, Acromesomelia, Clin...	ORPHA:464306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia, Adducted thumb	OMIM:614643
Faciocardiomelic Syndrome	Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtrum	OMIM:612731
Choanal Atresia	Polydactyly	ORPHA:137914
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola...	OMIM:309800
Renpenning Syndrome 1	Thin upper lip vermilion, Macrodontia, Narrow mouth, Cleft palate, High palate, Short philtrum, C...	OMIM:309500
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, L...	ORPHA:2211
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Tapered finger, Small hand, Hip dysplasia, Thick vermilion border, Microdontia, Microphthalmia, S...	OMIM:620005
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Broad hallux, Single transverse palmar cre...	OMIM:620186
Poland Syndrome	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A...	ORPHA:2911
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Meningoencephalocele, Cleft pal...	OMIM:236670
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, High palate, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of th...	OMIM:268300
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Postax...	OMIM:236700
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia	ORPHA:261537
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Abnormality of the dentition	ORPHA:1806
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	OMIM:248450
Bardet-Biedl Syndrome	Finger syndactyly, Postaxial hand polydactyly	ORPHA:110
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5...	ORPHA:457284
Simpson-Golabi-Behmel Syndrome	Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of finger, Short 2nd...	ORPHA:373
Mowat-Wilson Syndrome	Asplenia	ORPHA:2152
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ...	ORPHA:2908
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Gingival overgrowth, ...	OMIM:312870
22Q11.2 Deletion Syndrome	Arachnodactyly, Abnormal dental enamel morphology, Aganglionic megacolon, Intestinal malrotation,...	ORPHA:567
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia	ORPHA:261552
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
Fontaine Progeroid Syndrome	Syndactyly, Thin upper lip vermilion, Protruding tongue, High, narrow palate, Anteriorly placed a...	OMIM:612289
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Orofacial cleft, Abnormality of the upper limb, Intrauterine g...	ORPHA:1556
Orofaciodigital Syndrome Xiv	Natal tooth, Occipital encephalocele, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial han...	OMIM:615948
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Thin upper lip vermilion, Congenital hip dislocation, Overlapping toe, Postaxial p...	ORPHA:480880
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Hypoplasia of teeth	OMIM:234050
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme...	OMIM:261540
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati...	ORPHA:2729
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talon cusp, Widened ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talon cusp, Widened ...	ORPHA:353277
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Esophageal atresia...	OMIM:192350
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Rectoperineal fistula, Preaxial hand polydactyly, Partial d...	ORPHA:857
Aicardi Syndrome	Proximal placement of thumb, Hiatus hernia, Cleft upper lip, Spina bifida, Cleft palate, Micropht...	OMIM:304050
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pyloric stenosis, Supe...	ORPHA:268261
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft ma...	ORPHA:508488
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Abnorm...	ORPHA:138
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Neurocardiofaciodigital Syndrome	Syndactyly, Thin vermilion border, High palate, Polydactyly	OMIM:619869
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, Microphthalmia	OMIM:603457
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Optic nerve hypoplasia, Camptodactyly of finger, 4-5 finger syndactyly, Bi...	ORPHA:468631
Bloom Syndrome	Syndactyly, Agenesis of maxillary lateral incisor, Hand polydactyly, Clinodactyly of the 5th fing...	OMIM:210900
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Triangular mouth, Intestinal obstruction, Malabsorption	OMIM:601675
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndactyly, Metatarsal syno...	OMIM:107480
Lymphedema-Distichiasis Syndrome	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:153400
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Short toe, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion...	ORPHA:1519
Hartsfield Syndrome	Syndactyly, Median cleft lip, Cleft upper lip, Cleft palate, Ectrodactyly	OMIM:615465
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper...	OMIM:216340
Cockayne Syndrome B	Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Ivory epiphyses of the pha...	OMIM:133540
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Linear Skin Defects With Multiple Congenital Anomalies 1	Single transverse palmar crease, Cleft palate, Anteriorly placed anus, Colonic atresia, Microphth...	OMIM:309801
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly, Orofacial cleft	ORPHA:17
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo...	ORPHA:2136
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophilic infiltration...	OMIM:610168
Pearson Syndrome	Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,...	ORPHA:699
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short hard palate, Genu varum	ORPHA:1969
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Frontofacionasal Dysplasia	Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, Microphthalmia, Bifid uvula	OMIM:229400
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b...	OMIM:127000
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Cleft upper lip, Malr...	OMIM:113620
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Hand monodactyly, Hypoplasia of the ulna, Cleft up...	OMIM:214800
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Cleft upper lip, Partial duplication of thumb phalanx, Cle...	OMIM:164210
Trichothiodystrophy	Carious teeth, High, narrow palate, Bilateral microphthalmos, Clubbing, Umbilical hernia, Enamel ...	ORPHA:33364
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia, Micro...	OMIM:308300
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif...	OMIM:612109
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Delayed eruption of primary teeth	OMIM:300952
Treacher Collins Syndrome 1	Cleft soft palate, Bilateral microphthalmos, Cleft palate, Wide mouth, Abnormal parotid gland mor...	OMIM:154500
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, Microphthalmia	OMIM:206900
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth...	OMIM:309000
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing	OMIM:259770
Scalp-Ear-Nipple Syndrome	Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Agenesis of permanent tee...	OMIM:181270
Histiocytoid Cardiomyopathy	Microphthalmia, Cleft palate, Congenital aphakia	ORPHA:137675
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Abnormal digit morphology, Median cle...	ORPHA:95494
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Agenesis of canine, Orofacial cleft, High palate, Long phil...	ORPHA:141099
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Short metacarpal, Scapular winging, Chronic gastritis, Single transverse palmar creas...	OMIM:150230
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly ...	OMIM:620025
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Cockayne Syndrome	Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion...	ORPHA:191
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia	ORPHA:137605
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Thin upper lip vermilion, Sandal gap, Optic nerve hypoplasia, Long fingers, Cutaneous syndactyly,...	OMIM:620330
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Thick vermilion border, Long philtrum	ORPHA:2526
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Fraser Syndrome 3	Short toe, Cutaneous syndactyly	OMIM:617667
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Abnormal dental enamel morphology, Metatarsus val...	ORPHA:744
Holoprosencephaly 2	Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in...	OMIM:157170
Coffin-Siris Syndrome 12	Celiac disease, Short thumb, Slender finger, Velopharyngeal insufficiency, Submucous cleft hard p...	OMIM:619325
Cockayne Syndrome Type 3	Carious teeth, Microphthalmia, Enamel hypoplasia	ORPHA:90324
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Jejunal atresia, Ileal atresia, Long philtrum	OMIM:618820
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Abnormal dental enamel morphology, Abnormal rectum morphology, Microphthalmia, Abno...	ORPHA:2556
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Everted lower lip vermilion	OMIM:253280
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ...	OMIM:235730
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Postaxial polydactyly, Broad first metatarsal, Esophageal varix, Polydactyly, Everted...	OMIM:619534
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens	ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780

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 Pcgf3

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 Pcgf3.

No publications found that use IMPC mice or data for Pcgf3.

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
Pcgf3^em1(IMPC)Bay	Exon Deletion	Mice
Pcgf3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Pcgf3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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