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Gene: Cep135 MGI:2681869

Gene Summary

Name:

centrosomal protein 135

Synonyms:

LOC381644, Cep4

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
microphthalmia	Cep135^em1(IMPC)J	HOM	E12.5	0.00
decreased circulating serum albumin level	Cep135^em1(IMPC)J	HET	Late adult	0.00
anophthalmia	Cep135^em1(IMPC)J	HOM	E15.5	0.00
facial cleft	Cep135^em1(IMPC)J	HOM	E12.5	0.00
abnormal lens morphology	Cep135^em1(IMPC)J	HET	Late adult	5.52×10^-05
preweaning lethality, complete penetrance	Cep135^em1(IMPC)J	HOM	Early adult	0.00
increased circulating total protein level	Cep135^em1(IMPC)J	HET	Late adult	9.67×10^-05
edema	Cep135^em1(IMPC)J	HOM	E15.5	0.00
cataract	Cep135^em1(IMPC)J	HET	Early adult	2.36×10^-05
abnormal head shape	Cep135^em1(IMPC)J	HOM	E15.5	0.00
polydactyly	Cep135^em1(IMPC)J	HOM	E15.5	0.00
abnormal craniofacial morphology	Cep135^em1(IMPC)J	HOM	E15.5	0.00
decreased bone mineral density	Cep135^em1(IMPC)J	HET	Early adult	2.44×10^-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E12.5

Images

3 Images

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Gross Morphology Embryo E14.5-E15.5

Images

5 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Auditory Brain Stem Response

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

9 Images

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Human diseases caused by Cep135 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 Cep135 (2 diseases)
Human diseases predicted to be associated with Cep135 (873 diseases)

The table below shows human diseases associated to Cep135 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autosomal Recessive Primary Microcephaly		Abnormal cortical bone morphology	ORPHA:2512
Microcephaly 8, Primary, Autosomal Recessive			OMIM:614673

The table below shows human diseases predicted to be associated to Cep135 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Aldh18A1-Related De Barsy Syndrome	Joint hyperflexibility, Cataract	ORPHA:35664
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract 44	Developmental cataract	OMIM:616509
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Facial cleft	OMIM:600776
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease, Tessier number 4 facial cleft	OMIM:600251
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Trichomegaly	Cataract	OMIM:190330
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral micropht...	OMIM:607597
Frontonasal Dysplasia 3	Microphthalmia, Facial cleft, Brachycephaly	OMIM:613456
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Anophthalmia, Facial cleft, Brachycephaly	ORPHA:66625
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Abnormality of the humerus, Facial cleft, Aplasia/Hypopla...	ORPHA:1794
Hyperferritinemia With Or Without Cataract	Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract	OMIM:600886
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Nathalie Syndrome	Cataract	ORPHA:2663
Anophthalmia Plus Syndrome	Deviation of finger, Anophthalmia, Facial cleft	ORPHA:1104
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Microphthalmia With Limb Anomalies	Frontal bossing, Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capit...	OMIM:206920
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Microphthalmia, Rocker bottom foot, Edema	OMIM:616570
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Acrofacial Dysostosis, Weyers Type	Postaxial hand polydactyly, Small hand, Facial cleft, Clinodactyly of the 5th finger, Overlapping...	ORPHA:952
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Meckel Syndrome, Type 8	Anophthalmia, Pericardial effusion, Polydactyly, Talipes equinovarus, Microphthalmia	OMIM:613885
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
X-Linked Retinoschisis	Cataract	ORPHA:792
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Abnormal calvaria morphology	ORPHA:2432
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Osteoporosis	Osteoporosis	OMIM:166710
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Frontofacionasal Dysplasia	Microphthalmia, Facial cleft, Brachycephaly, Midface retrusion	ORPHA:1791
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Cataract 47	Microcornea, Cataract	OMIM:612018
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Frontal bossing, Camptodactyly of finger, Tapered finger, Brachycephaly, Facial cleft, Microphtha...	ORPHA:1236
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Carpenter Syndrome	Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ...	ORPHA:65759
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Hypoalbuminemia	OMIM:618805
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Polyhydramnios, Hip d...	ORPHA:99776
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb	ORPHA:3434
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi...	OMIM:615297
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia	ORPHA:294975
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Hypertelorism, Microtia, Facial Clefting Syndrome	Small thenar eminence, Facial cleft, Short 5th finger, 2-3 toe syndactyly	OMIM:239800
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Supernumerary Nostril	Facial cleft	ORPHA:141096
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly, Brachycephaly, Midface retrusion	ORPHA:35099
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Facial cleft	OMIM:601357
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia, Congenital hip dislocation	OMIM:164180
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Brachycephaly	ORPHA:2528
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Frontal bossing, Camptodactyly of finger, Polyhydramnios, Symphalangism affecting the phalanges o...	ORPHA:2547
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Nanophthalmos	Microphthalmia	ORPHA:35612
Mycophenolate Mofetil Embryopathy	Facial cleft, Hydrops fetalis, Foot polydactyly, Short palm, Microphthalmia	ORPHA:268249
Trisomy 13	Anophthalmia, Postaxial hand polydactyly, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Abnorm...	ORPHA:3378
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Paternal Uniparental Disomy Of Chromosome 5	Polyhydramnios, Abnormally large globe, Posterior plagiocephaly, Rhizomelic arm shortening, Abnor...	ORPHA:96190
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Small hand, Facial cleft, Short palm, Clinodactyly of the 5th f...	ORPHA:1786
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Trisomy 1Q	Frontal bossing, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Polyhydra...	ORPHA:261344
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	OMIM:242150
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Proximal placement of th...	ORPHA:93267
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph...	ORPHA:139471
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Unilateral Ocular Duplication	Frontal bossing, Midline facial cleft, Polyhydramnios, Dolichocephaly	ORPHA:3374
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ...	ORPHA:1553
Acromelic Frontonasal Dysostosis	Syndactyly, Optic nerve hypoplasia, Parietal foramina, Midline facial cleft, Preaxial polydactyly...	OMIM:603671
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Anencephaly 2	Anophthalmia	OMIM:619452
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Temtamy Syndrome	Brachydactyly, Short toe, Dolichocephaly, Clinodactyly of the 5th finger, Microphthalmia, Genu varum	ORPHA:1777
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius, Polyhydramnios	ORPHA:3469
Flynn-Aird Syndrome	Increased bone mineral density, Cataract, Joint stiffness, Osteoporosis, Increased bone density w...	OMIM:136300
Hydrolethalus	Anophthalmia, Polyhydramnios, Micromelia, Postaxial hand polydactyly, Microphthalmia	ORPHA:2189
Congenital Varicella Syndrome	Microphthalmia, Micromelia	ORPHA:291
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly	ORPHA:141333
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Nathalie Syndrome	Cataract	OMIM:255990
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract, Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr...	OMIM:616050
Frontonasal Dysplasia 2	Tessier number 13 facial cleft, Craniosynostosis, Parietal foramina, Brachycephaly, Anterior plag...	OMIM:613451
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:618392
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2...	OMIM:123150
Craniotelencephalic Dysplasia	Microphthalmia, Frontal bossing, Septo-optic dysplasia, Craniosynostosis	ORPHA:1528
Kahrizi Syndrome	Elbow contracture, Cataract, Iris coloboma, Knee flexion contracture	OMIM:612713
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of me...	OMIM:300863
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Facial cleft, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, M...	ORPHA:306542
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Pierpont Syndrome	Short toe, Brachycephaly, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, P...	OMIM:602342
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Clinodactyly, Brachycephaly, Cone-shaped epiphyses of the p...	OMIM:602849
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Cataract	OMIM:614876
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly	OMIM:614416
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
17Q12 Microduplication Syndrome	Microphthalmia, Finger syndactyly, Toe syndactyly, Polyhydramnios	ORPHA:261272
Joubert Syndrome 22	Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly	OMIM:615665
Meckel Syndrome, Type 11	Polydactyly, Oligohydramnios	OMIM:615397
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Flat acetab...	OMIM:617102
Pierpont Syndrome	Short toe, Brachycephaly, Deep palmar crease, Short finger, Prominent fingertip pads, Microphthal...	ORPHA:487825
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly, Syndactyly, Clinodactyly of the 5th finger, Tapered finger	OMIM:618725
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Congenital Disorder Of Glycosylation, Type Ij	Cataract, Hypoproteinemia	OMIM:608093
Al-Gazali-Bakalinova Syndrome	Frontal bossing, Epiphyseal dysplasia, Tapered finger, Lymphedema, Flattened epiphysis, Genu valg...	OMIM:607131
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia, Craniosynostosis	OMIM:218670
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h...	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h...	ORPHA:529799
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Plagiocephaly, Short p...	ORPHA:3210
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Small hand, Prominent occiput, Absent distal phalanges, Micropht...	OMIM:619339
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Facial cleft	OMIM:248340
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Isolated Arrhinia	Microphthalmia, Facial cleft	ORPHA:1134
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Microgastria-Limb Reduction Defect Syndrome	Frontal bossing, Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality ...	ORPHA:2538
Hartsfield Syndrome	Microphthalmia, Aplasia/Hypoplasia of the radius, Split hand, Craniosynostosis	ORPHA:2117
Achondrogenesis, Type Ii	Frontal bossing, Broad long bones, Edema, Short tubular bones of the hand, Abnormally large globe...	OMIM:200610
Septooptic Dysplasia	Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger	OMIM:182230
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Coxa valga, Slender finger, Abnormality of the elbow, Brachycephaly, Flat acetab...	ORPHA:163649
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Frontal bossing, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcane...	ORPHA:163966
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Frontal bossing, Arachnodactyly, Postaxial polydactyly, Tapered finger, Brachycephaly, Genu valgu...	OMIM:619721
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Immunodeficiency 27A	Hypoalbuminemia	OMIM:209950
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Constricting Bands, Congenital	Syndactyly, Hand polydactyly, Facial cleft, Talipes equinovarus	OMIM:217100
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Stiff Skin Syndrome	Cataract, Elbow flexion contracture, Limited shoulder movement, Knee flexion contracture, Camptod...	OMIM:184900
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Moebius Syndrome	Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Ta...	OMIM:157900
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Bardet-Biedl Syndrome 8	Brachycephaly, Postaxial polydactyly	OMIM:615985
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Brachycephaly, Short foot, ...	ORPHA:264200
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Pectoral muscle hypoplasia/aplasia, Radial deviation of finger, Campt...	OMIM:136760
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly	OMIM:611561
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	ORPHA:2070
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Camptodactyly of finger, Ulnar deviation of finger, Plagiocephaly, Talipes equinova...	ORPHA:1101
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Syndactyly, Polydactyly	OMIM:602501
Cerebrooculonasal Syndrome	Frontal bossing, Anophthalmia, Optic nerve hypoplasia, Craniosynostosis, Proboscis, Postaxial pol...	OMIM:605627
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Delayed proximal ...	ORPHA:93296
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Midface retrusion	ORPHA:1135
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h...	ORPHA:93258
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Leishmaniasis	Hypoalbuminemia	ORPHA:507
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Talipes equinovarus	OMIM:616171
Holoprosencephaly 1	Microphthalmia, Facial cleft, Midface retrusion, Proboscis	OMIM:236100
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Treacher-Collins Syndrome	Frontal bossing, Facial cleft, Brachycephaly, Microphthalmia, Midface retrusion	ORPHA:861
Osteoporosis-Pseudoglioma Syndrome	Frontal bossing, Crumpled long bones, Metaphyseal widening, Microphthalmia, Abnormal femoral neck...	ORPHA:2788
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Dolichocep...	OMIM:614091
Joubert Syndrome 10	Frontal bossing, Postaxial polydactyly	OMIM:300804
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Frontal bossing, Brachycephaly, Microphthalmia, Coronal craniosynostosis, Calvarial skull defect,...	ORPHA:228390
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Cofs Syndrome	Microphthalmia, Camptodactyly of finger	ORPHA:1466
Aniridia 3	Aniridia, Cataract	OMIM:617142
Ring Chromosome 10 Syndrome	Microphthalmia, Frontal bossing, Sandal gap, Tapered finger	ORPHA:1438
Pellagra-Like Syndrome	Cataract	OMIM:260650
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Split hand, Brachycephaly, Oligohy...	ORPHA:2145
Microphthalmia, Syndromic 8	Microphthalmia, Split foot	OMIM:601349
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Mosaic Trisomy 1	Long toe, Frontal bossing, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar cr...	ORPHA:1692
Leptospirosis	Hyperproteinemia, Conjunctival hyperemia	ORPHA:509
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Avian Influenza	Conjunctivitis, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated cir...	ORPHA:454836
Dengue Fever	Hypoproteinemia	ORPHA:99828
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Aplasia/Hypoplasia of the phalanges of the hand, B...	OMIM:219000
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia	ORPHA:195
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Polyhydramnios, Postaxial polydactyly, Brachydactyly	OMIM:615633
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly	OMIM:619981
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Meckel Syndrome, Type 2	Microphthalmia, Bowing of the long bones, Polydactyly, Postaxial hand polydactyly	OMIM:603194
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Forearm under...	OMIM:251230
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Promin...	OMIM:617895
Ivic Syndrome	Hypoplasia of the ulna, Frontal bossing, Short femur, Limited interphalangeal movement, Limited e...	OMIM:147750
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly	OMIM:619694
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Overlapping toe, Postaxial polydactyly, Tapered finger, Brachycephaly, Macular hypo...	OMIM:613792
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris...	OMIM:609049
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis, Craniosynostosis, Plagiocephaly, Slender long bone, Decreased calvaria...	OMIM:618265
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Bresek Syndrome	Plagiocephaly, Microphthalmia, Postaxial hand polydactyly, Optic nerve hypoplasia	ORPHA:85284
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Monosomy 18P	Lymphedema, Microphthalmia, Brachycephaly, Brachydactyly	ORPHA:1598
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Joint stiffness, Ectopia lentis	ORPHA:1885
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Gracile Bone Dysplasia	Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Ascites, Brachydactyly	OMIM:602361
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Microphthalmia	OMIM:308350
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Stevenson-Carey Syndrome	Brachycephaly, Hip dysplasia, Camptodactyly, Microphthalmia, Joint contracture of the hand	OMIM:611961
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, Brachycephaly, Clin...	ORPHA:3103
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Temtamy Syndrome	Frontal bossing, Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachydactyly	OMIM:218340
Sandestig-Stefanova Syndrome	Rocker bottom foot, Camptodactyly, Trigonocephaly, Microphthalmia, Clinodactyly, Bilateral single...	OMIM:618804
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Cataract, Joint stiffness	ORPHA:1345
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Craniosynostosis 2	Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Triphalang...	OMIM:604757
Cataract 48	Cataract	OMIM:618415
Walker-Warburg Syndrome	Metatarsus valgus, Microphthalmia, Anophthalmia	ORPHA:899
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Elbow flexion contracture, Dehydration, Second metatarsal posteri...	OMIM:214150
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Plagiocephal...	OMIM:605282
Atelosteogenesis Type Ii	Micromelia, Polyhydramnios, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the ha...	ORPHA:56304
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Brachycephaly, Bilateral talipes eq...	OMIM:618142
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Increase...	OMIM:619879
Chondrodysplasia Punctata 2, X-Linked Dominant	Frontal bossing, Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, ...	OMIM:302960
Curry-Jones Syndrome	Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydactyly, 2-3 finger syndac...	OMIM:601707
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Dolichocephaly	OMIM:167730
Congenital Toxoplasmosis	Microphthalmia, Ascites	ORPHA:858
Warburg Micro Syndrome 1	Microphthalmia, Overlapping toe	OMIM:600118
Joubert Syndrome 27	Frontal bossing, Polydactyly	OMIM:617120
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Brachycephaly, Postaxial polydactyly	OMIM:615761
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Corneal erosion, Decreased serum zinc, Hypoalbuminemia, Decreased circulati...	ORPHA:89842
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4t...	OMIM:618914
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia	ORPHA:367
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality of the upper l...	ORPHA:974
Vacterl With Hydrocephalus	Anophthalmia, Polyhydramnios, Hypoplasia of the radius, Hip dislocation, Microphthalmia	ORPHA:3412
Arthrogryposis, Distal, Type 4	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Cranial asymmetry, Camptodactyl...	OMIM:609128
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Silver-Russell Syndrome Due To A Point Mutation	Frontal bossing, Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th...	ORPHA:397590
Nephronophthisis 15	Polydactyly	OMIM:614845
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Frontal bossing, Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postax...	ORPHA:93271
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Adams-Oliver Syndrome 2	Single transverse palmar crease, Absent distal phalanges, Short middle phalanx of finger, Microph...	OMIM:614219
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ...	OMIM:610758
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Camptodactyly of finger	ORPHA:48431
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Lissencephaly 8	Microphthalmia, Talipes equinovarus	OMIM:617255
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Joubert Syndrome 37	Microphthalmia, Frontal bossing, Postaxial polydactyly	OMIM:619185
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap	OMIM:300887
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia	OMIM:251880
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Brachycephaly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad dista...	ORPHA:404440
Martsolf Syndrome 1	Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger...	OMIM:212720
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia	OMIM:606744
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Single transverse palmar crease, Oligohydramnios	OMIM:619053
Baraitser-Winter Syndrome 2	Trigonocephaly, Microphthalmia	OMIM:614583
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Cockayne Syndrome Type 2	Anophthalmia	ORPHA:90322
Weill-Marchesani Syndrome	Cataract, Limitation of joint mobility, Ectopia lentis	ORPHA:3449
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Meckel Syndrome	Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand polydactyly, Po...	ORPHA:564
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Cataract, Hypoalbuminemia, Opacification of the corneal stroma	OMIM:251300
Xfe Progeroid Syndrome	Hypoalbuminemia, Corneal scarring	OMIM:610965
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Oculofaciocardiodental Syndrome	Short thumb, Broad palm, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contracture of the 2...	ORPHA:2712
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Aniridia, Biparietal narrowing, Camptodactyly of to...	ORPHA:251038
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Cataract 24	Anterior polar cataract	OMIM:601202
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Keratoconjuncti...	ORPHA:14
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Increased nuchal translucency, Hip dysplasia, Prominent fingertip pads, Overlapp...	OMIM:618494
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Brachycephaly, Clinodactyly of the 5th finger,...	OMIM:201000
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Premature Aging Syndrome, Okamoto Type	Cataract, Osteoporosis	OMIM:601811
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti...	OMIM:258860
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry	ORPHA:231140
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Meckel Syndrome, Type 10	Frontal bossing, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, ...	OMIM:614175
Oculodentodigital Dysplasia, Autosomal Recessive	Frontal bossing, Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyl...	OMIM:257850
Achard Syndrome	Broad skull, Arachnodactyly, Brachycephaly	OMIM:100700
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Frontal bossing, Broad hallux, Single transverse palmar crease	OMIM:614105
Cardioacrofacial Dysplasia 1	Limb undergrowth, Midface retrusion, Postaxial polydactyly, Genu valgum	OMIM:619142
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoalbuminemia	OMIM:618329
Muenke Syndrome	Tarsal synostosis, Brachycephaly, Plagiocephaly, Cone-shaped epiphysis, Short foot, Short palm, C...	ORPHA:53271
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract, Joint stiffness	ORPHA:1366
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Pelger-Huet Anomaly	Frontal bossing, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal,...	OMIM:169400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Brachycephaly, Plagiocephaly, Camp...	ORPHA:369891
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d...	OMIM:180750
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Flat occiput, Lymphedema	OMIM:152950
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Polyhydramnios, Prominent occiput, Hand clenching, Microphthalmia	OMIM:616920
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia	OMIM:617303
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Camptodactyly of finger, Rocker bottom foot	OMIM:610756
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti...	OMIM:607323
Osteopetrosis, Autosomal Recessive 8	Frontal bossing, Unilateral microphthalmos	OMIM:615085
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microphthalmia, Midface retrusion	OMIM:610829
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia	OMIM:616910
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Plagiocephaly, Hip dysplasia, Deviation of the 5th finger	OMIM:616362
Focal Dermal Hypoplasia	Short metacarpal, Toe syndactyly, Congenital hip dislocation, Anophthalmia, Postaxial hand polyda...	OMIM:305600
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Joint hypermobility, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Rheumatoid ...	ORPHA:85410
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Warburg Micro Syndrome 2	Overlapping toe, Brachycephaly, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the ...	OMIM:614225
Baraitser-Winter Syndrome 1	Trigonocephaly, Microphthalmia, Duplication of phalanx of hallux, Midface retrusion	OMIM:243310
Microphthalmia, Syndromic 3	Frontal bossing, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microphthalmia	OMIM:206900
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Kayser-Fleischer ring, Hypoalbum...	OMIM:277900
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology	ORPHA:290
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo...	OMIM:615503
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Frontal bossing, Postaxial polydactyly, Abnormally large globe	OMIM:603387
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Frontal bossing, Microphthalmia	OMIM:617306
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Brachycephaly, Cut...	OMIM:619148
1Q21.1 Microdeletion Syndrome	Frontal bossing, Broad hallux phalanx, Toe syndactyly, Short foot, Hand polydactyly, Talipes equi...	ORPHA:250989
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia	OMIM:619487
Chromosome 1Q41-Q42 Deletion Syndrome	Frontal bossing, Sandal gap, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Dolichocephaly...	OMIM:612530
Galloway-Mowat Syndrome 3	Frontal bossing, Arachnodactyly, Edema, Hip dislocation, Camptodactyly, Microphthalmia, Midface r...	OMIM:617729
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Frontal bossing, Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5t...	OMIM:620098
Premature Aging Syndrome, Penttinen Type	Frontal bossing, Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender l...	OMIM:601812
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse...	OMIM:619135
Holoprosencephaly	Frontal bossing, Anophthalmia, Flat occiput, Hand polydactyly, Microphthalmia, Brachydactyly	ORPHA:2162
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovarus, Camptodactyly	OMIM:614815
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hypocholesterolemia	OMIM:212065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel...	ORPHA:2839
Al Amyloidosis	Increased circulating NT-proBNP concentration, Hypoalbuminemia	ORPHA:85443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
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
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb...	ORPHA:37042
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion	ORPHA:2526
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Brachycephaly	OMIM:612379
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Flat acetabular roo...	OMIM:616300
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Bilateral single transverse palmar creases, Synostosis of carpal bones	ORPHA:3191
Joubert Syndrome 23	Polydactyly	OMIM:616490
Alg12-Cdg	Hyponatremia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Teebi-Shaltout Syndrome	Syndactyly, Turricephaly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bo...	OMIM:272950
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Fanconi Anemia, Complementation Group S	Microphthalmia, Clinodactyly, Proximal placement of thumb	OMIM:617883
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia...	ORPHA:167
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Optic nerve hypoplasia	ORPHA:137634
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Corneal opacity	ORPHA:79396
Cranioectodermal Dysplasia 3	Frontal bossing, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 to...	OMIM:614099
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly	OMIM:618727
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Dolichocephaly	ORPHA:2399
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Meckel Syndrome, Type 4	Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly	OMIM:611134
Microphthalmia, Syndromic 2	Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Phthisis bulbi, 2-3 toe syn...	OMIM:300166
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Multicentric Osteolysis, Nodulosis, And Arthropathy	Metaphyseal widening, Brachycephaly, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion c...	OMIM:259600
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Enlarged interphalangeal joints, Proximal placement of thumb, Abnormality of the epiphysis of the...	ORPHA:2988
Holoprosencephaly-Craniosynostosis Syndrome	Brachydactyly, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Clinodactyly of the 5t...	ORPHA:2163
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Brachycephaly, Plagiocephaly, Toe clinodactyly, Clinodactyly of the 5th finger	OMIM:619910
Fanconi Anemia, Complementation Group R	Microphthalmia, Radial dysplasia, Absent thumb	OMIM:617244
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Frontal bossing, Small hand, Short foot, Short palm, Microphthalmia	OMIM:241410
Kapur-Toriello Syndrome	Single transverse palmar crease, Camptodactyly of finger, Short thumb, Microphthalmia, Overlappin...	OMIM:244300
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:607361
Joubert Syndrome 16	Polydactyly	OMIM:614465
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis	OMIM:222470
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc...	ORPHA:90363
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Abn...	ORPHA:3472
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Frontal bossing, Overlapping toe, Dolichocephaly	OMIM:618571
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Brach...	OMIM:207410
Cockayne Syndrome Type 1	Anophthalmia	ORPHA:90321
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Abnormality of the palmar creases	OMIM:618652
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor...	OMIM:609053
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Frontal bossing, Postaxial polydactyly, Preaxial polydactyly, Brachycephaly, Fibular hypoplasia, ...	OMIM:617925
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Conjunctivitis, Hypoalbuminemia	ORPHA:505248
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Ascites, Polydactyly, Edema	ORPHA:93400
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Brachycephaly, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal ...	OMIM:201180
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig...	ORPHA:2298
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Microphthalmia, Brachycephaly	OMIM:614222
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Plagiocephaly, Delayed ossifi...	OMIM:620099
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Frontal bossing, Hip dysplasia	ORPHA:494344
Linear Nevus Sebaceus Syndrome	Frontal bossing, Prominent occiput, Plagiocephaly, Biparietal narrowing, Microphthalmia	ORPHA:2612
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Polydactyly, Complete duplication of thumb phalanx, Sho...	ORPHA:59315
Refsum Disease	Microphthalmia, Abnormal epiphysis morphology, Short metacarpal, Hammertoe	ORPHA:773
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Suleiman-El-Hattab Syndrome	Clinodactyly, Polydactyly, Single transverse palmar crease, Brachydactyly	OMIM:618950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Basal Cell Nevus Syndrome 1	Frontal bossing, Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Polyd...	OMIM:109400
Myoclonic-Astatic Epilepsy	Microphthalmia, Syndactyly	ORPHA:1942
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Narrow palm, Slender toe, Genu val...	ORPHA:193
X-Linked Dominant Chondrodysplasia Punctata	Frontal bossing, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal...	ORPHA:35173
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty...	OMIM:101200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Orofaciodigital Syndrome Type 6	Frontal bossing, Syndactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial polydac...	ORPHA:2754
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Upper limb asymmetry, Edema	ORPHA:2505
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Long fingers, Brachycephaly	OMIM:156610
Marden-Walker Syndrome	Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Microphthalmia, Joint ...	OMIM:248700
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Joubert Syndrome 7	Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr...	OMIM:277170
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Warburg Micro Syndrome 4	Microphthalmia, Brachycephaly	OMIM:615663
Fanconi Anemia, Complementation Group F	Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Micro...	OMIM:603467
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
9Q21.13 Microdeletion Syndrome	Hip dysplasia, Polydactyly, Craniosynostosis	ORPHA:531151
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Deviation of the 2nd finger,...	ORPHA:464738
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers	ORPHA:335
Mend Syndrome	Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Hand polydactyly, Microphthalmia...	ORPHA:401973
Trisomy 18	Camptodactyly of finger, Postaxial hand polydactyly, Oligohydramnios, Prominent occiput, Narrow p...	ORPHA:3380
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Edema of the dorsum of hands, Brachycephaly, Femoral bowing, Abnorma...	OMIM:274000
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Cataract, Iris coloboma, Corneal scarring	OMIM:212550
Hallermann-Streiff Syndrome	Frontal bossing, Abnormality of the hand, Metaphyseal widening, Scaphocephaly, Brachycephaly, Sle...	OMIM:234100
Charge Syndrome	Anophthalmia, Polyhydramnios, Abnormal tibia morphology, Bifid femur, Clinodactyly of the 5th fin...	ORPHA:138
Joubert Syndrome 2	Frontal bossing, Postaxial hand polydactyly, Postaxial foot polydactyly, Dolichocephaly, Micropht...	OMIM:608091
Momo Syndrome	Frontal bossing, Bilateral microphthalmos, Brachycephaly, Femoral bowing, Large hands, Short ster...	ORPHA:2563
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht...	OMIM:153400
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Spli...	ORPHA:2092
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Trichothiodystrophy 3, Photosensitive	Trigonocephaly, Microphthalmia	OMIM:616395
Fetal Alcohol Syndrome	Microphthalmia, Biparietal narrowing	ORPHA:1915
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Aplasia/Hypoplasia involving the pelvis, Septo-optic dysplasia, Polyhydramnios	ORPHA:3301
Myhre Syndrome	Overlapping toe, Pericardial effusion, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Shor...	OMIM:139210
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca...	ORPHA:90652
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th...	ORPHA:568
Mend Syndrome	Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Polydactyly, Macular hypoplasia,...	OMIM:300960
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Charge Syndrome	Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Po...	OMIM:214800
Fraser Syndrome	Finger syndactyly, Anophthalmia, Toe syndactyly, Microphthalmia, Calvarial skull defect, Wide pub...	ORPHA:2052
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Trigonocephal...	ORPHA:1587
Cranioectodermal Dysplasia 2	Frontal bossing, Syndactyly, Cloverleaf skull, Rhizomelia, Craniosynostosis, Polyhydramnios, Post...	OMIM:613610
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Rodrigues Blindness	Microphthalmia	OMIM:268320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Frontorhiny	Finger clinodactyly, Microphthalmia, Camptodactyly of finger, Brachydactyly	ORPHA:391474
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing...	ORPHA:404448
Smith-Lemli-Opitz Syndrome	Cataract, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholester...	OMIM:270400
Joubert Syndrome 14	Microphthalmia, Postaxial polydactyly	OMIM:614424
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Proboscis	ORPHA:141099
Pseudoaminopterin Syndrome	Frontal bossing, Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow m...	ORPHA:221120
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Oligohydramnios	OMIM:615824
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen...	ORPHA:284160
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia, Midface retrusion	ORPHA:2556
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Rieger anomaly, Tapered finger, Long fingers, Calcaneovalgus deformity, Brachycephaly, Buphthalmo...	ORPHA:521445
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Epiphyseal stippling, Cataract, Knee flexion contracture	OMIM:118650
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Miller-Dieker Lissencephaly Syndrome	Frontal bossing, Single transverse palmar crease, Polyhydramnios, Deep palmar crease, Polydactyly...	OMIM:247200
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Microphthalmia, Long th...	OMIM:300895
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short thumb, Preaxial...	OMIM:113620
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Camptodactyly, Microphthalmia, Absent palmar crease	OMIM:614230
Congenital Disorder Of Glycosylation, Type Iil	Peau d'orange, Hip dysplasia, Postaxial polydactyly	OMIM:614576
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the...	ORPHA:364577
Primary Sclerosing Cholangitis	Hypoalbuminemia	ORPHA:171
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly	OMIM:264480
Carpenter Syndrome 2	Frontal bossing, Short digit, Single transverse palmar crease, Craniosynostosis, Postaxial polyda...	OMIM:614976
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad hallux, Overlapping toe, Abnormality of the hand, Optic nerve hypoplasia, Preaxial hand pol...	ORPHA:508498
Choanal Atresia	Polydactyly, Craniosynostosis	ORPHA:137914
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Frontal bossing, Optic nerve hypoplasia, Adducted thumb	OMIM:614643
Craniosynostosis And Dental Anomalies	Hallux valgus, Frontal bossing, Turricephaly, Flat occiput, Broad hallux, Sagittal craniosynostos...	OMIM:614188
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Joubert Syndrome 21	Anophthalmia	OMIM:615636
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Phocomelia, Mi...	OMIM:184705
Monosomy 9P	Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydactyly, Brachyc...	ORPHA:261112
Fanconi Anemia, Complementation Group E	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:600901
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus, Hypoplasia o...	ORPHA:3186
Fanconi Anemia	Frontal bossing, Finger syndactyly, Toe syndactyly, Hypoplasia of the ulna, Abnormal morphology o...	ORPHA:84
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Single transverse palmar crease, 2-3 toe syndactyly	OMIM:616449
Monosomy 9Q22.3	Trigonocephaly, Microphthalmia, Polydactyly, Palmar pits	ORPHA:77301
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Postaxial polydactyly, Tapered finger, Hip dislocation, Small hand, Brachycephaly, Short foot, Hi...	OMIM:300968
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Jacobsen Syndrome	Flat occiput, Macular hypoplasia, Clinodactyly of the 5th finger, Trigonocephaly, Microphthalmia,...	OMIM:147791
Fanconi Anemia, Complementation Group A	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:227650
Culler-Jones Syndrome	Midface retrusion, Postaxial polydactyly	OMIM:615849
Rothmund-Thomson Syndrome, Type 2	Frontal bossing, Congenital hip dislocation, Short thumb, Small hand, Short foot, Talipes equinov...	OMIM:268400
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Orofaciodigital Syndrome V	Frontal bossing, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot po...	OMIM:174300
Chromosome 13Q14 Deletion Syndrome	Frontal bossing, Overlapping toe, Single transverse palmar crease, Hip dislocation, Dolichocephal...	OMIM:613884
Atelis Syndrome 2	Microphthalmia, Frontal bossing, Clinodactyly, Single transverse palmar crease	OMIM:620185
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Frontal bossing, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg shortening...	ORPHA:397715
3Q29 Microdeletion Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Tapered finger	ORPHA:65286
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Abnormal palmar dermatoglyphics	ORPHA:2728
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Plagiocephaly, Hip dysplasia, Clinod...	ORPHA:457284
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Polyhydramnios, Long fingers, ...	OMIM:256520
Mosaic Variegated Aneuploidy Syndrome	Frontal bossing, Polyhydramnios, Increased nuchal translucency, Abnormality of the upper limb, Cl...	ORPHA:1052
Hallermann-Streiff Syndrome	Frontal bossing, Small hand, Brachycephaly, Short foot, Clinodactyly of the 5th finger, Microphth...	ORPHA:2108
Fryns Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Polyhydramnios, Short distal phalanx of finger	ORPHA:2059
Oculodentodigital Dysplasia	4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Short middle phalanx...	OMIM:164200
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb...	OMIM:227646
Stromme Syndrome	Microphthalmia, Preaxial polydactyly, Optic nerve hypoplasia	OMIM:243605
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Postaxial polydactyly	OMIM:219730
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Edema, Long fingers, ...	OMIM:617527
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:619381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Pallister-Hall Syndrome	Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ...	ORPHA:672
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Frontal bossing, Turricephaly, Mesoaxial foot polydactyly, Overlapping toe, Single transverse pal...	OMIM:612474
Frontofacionasal Dysplasia	Microphthalmia, Brachycephaly, Hypoplasia of the frontal bone, Midface retrusion	OMIM:229400
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Postaxial h...	OMIM:249000
Oculo-Palato-Cerebral Syndrome	Short foot, Microphthalmia, Small hand	ORPHA:2714
Fraser Syndrome 2	Microphthalmia, Oligohydramnios, Cutaneous syndactyly	OMIM:617666
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicle...	OMIM:309800
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Au-Kline Syndrome	Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Postaxial polydactyly, Coxa valga, ...	OMIM:616580
Fanconi Anemia, Complementation Group C	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:227645
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Frontal bossing, Craniosynostosis, Tapered finger, Scaphocephaly, Small hand, Hip dysplasia, Micr...	OMIM:620005
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Polyhydramnios, Aplastic clavicle, Micromelia, Preaxial polydactyly, Hydro...	OMIM:616546
Fryns Syndrome	Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Polyhydramnios,...	OMIM:229850
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Sh...	OMIM:608670
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Holoprosencephaly 7	Frontal bossing, Flat occiput, Bilateral microphthalmos, Cranial asymmetry, Microphthalmia, Parie...	OMIM:610828
Orofaciodigital Syndrome I	Frontal bossing, Syndactyly, Short 2nd toe, Polydactyly, Radial deviation of finger, Dolichocepha...	OMIM:311200
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Adducted thumb	OMIM:618874
Papillorenal Syndrome	Microphthalmia, Edema	OMIM:120330
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Broad hallux, Tapered finger, Small hand, Genu valgum, Posterior plagiocephaly, Polyd...	OMIM:615873
Incontinentia Pigmenti	Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f...	ORPHA:464
Rubinstein-Taybi Syndrome 1	Frontal bossing, Syndactyly, Broad hallux phalanx, Broad hallux, Single transverse palmar crease,...	OMIM:180849
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Postaxial hand polydactyly, Polyhydramnios	ORPHA:2166
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia	OMIM:601552
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Craniosynostosis, Aplasia of the ulna, Absent ...	OMIM:268300
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormal toe morphology, Abnormal finger morphology, Cranial asymmetry	OMIM:163200
Micro Syndrome	Microphthalmia	ORPHA:2510
Khan-Khan-Katsanis Syndrome	Buphthalmos, Frontal bossing, Clinodactyly, Postaxial polydactyly	OMIM:618460
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Osteoporosis, Increased susceptibility t...	OMIM:259770
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy...	ORPHA:2886
Aicardi Syndrome	Plagiocephaly, Microphthalmia, Hip dysplasia, Small hand	ORPHA:50
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b...	OMIM:127000
Hydrolethalus Syndrome 1	Polyhydramnios, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ...	OMIM:236680
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Polydactyly, Acromesomelia, Clinodactyly of the 5t...	ORPHA:464306
Degcags Syndrome	Syndactyly, Toe syndactyly, Craniosynostosis, Polyhydramnios, Short thumb, Preaxial hand polydact...	OMIM:619488
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Broad hallux, Single transverse palmar crease, Polyhydramnios, Dolichocephaly, Microphthalmia, Cl...	OMIM:620186
Fontaine Progeroid Syndrome	Syndactyly, Turricephaly, Craniosynostosis, Brachycephaly, Oligohydramnios, Deep palmar crease, A...	OMIM:612289
Adams-Oliver Syndrome 1	Toe syndactyly, Talipes equinovarus, Microphthalmia, Calvarial skull defect, Brachydactyly	OMIM:100300
Dubowitz Syndrome	Syndactyly, Single transverse palmar crease, Hypoplasia of the iris, Clinodactyly of the 5th fing...	OMIM:223370
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Craniofacial Microsomia 1	Anophthalmia, Partial duplication of thumb phalanx, Genu valgum, Transverse facial cleft, Microph...	OMIM:164210
Skin Creases, Congenital Symmetric Circumferential, 2	Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic...	OMIM:616734
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Frontal bossing, Syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Microphthalmia	OMIM:616975
Fanconi Anemia, Complementation Group L	Absent radius, Microphthalmia, Bilateral talipes equinovarus, Absent thumb	OMIM:614083
Kinsship Syndrome	Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Me...	OMIM:619297
Witteveen-Kolk Syndrome	Frontal bossing, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, Po...	OMIM:613406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Craniosynostosis, Postaxial polydactyly, Sagittal craniosynostosis, Incre...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Craniosynostosis, Postaxial polydactyly, Sagittal craniosynostosis, Incre...	ORPHA:352665
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Camptodactyly of finger, Craniosynostosis, Abnormal occipital bone morphol...	ORPHA:468631
Peroxisome Biogenesis Disorder 12A (Zellweger)	Scaphocephaly, Cranial asymmetry	OMIM:614886
Oculocerebrorenal Syndrome Of Lowe	Frontal bossing, Flat occiput, Hip dislocation, Dehydration, Genu valgum, Buphthalmos, Joint swel...	ORPHA:534
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge...	OMIM:619539
22Q11.2 Deletion Syndrome	Turricephaly, Arachnodactyly, Polyhydramnios, Multiple suture craniosynostosis, Hand polydactyly,...	ORPHA:567
Cockayne Syndrome B	Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Square pelvis bone, Hypopla...	OMIM:133540
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
Okamoto Syndrome	Abnormally large globe, Hip dysplasia, Polydactyly, Midface retrusion, Oligohydramnios	ORPHA:2729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Cat Eye Syndrome	Absent radius, Microphthalmia	OMIM:115470
Renpenning Syndrome 1	Brachycephaly, Camptodactyly, Clinodactyly of the 5th finger, Synostosis of the proximal phalanx ...	OMIM:309500
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia, Pulmonary edema	ORPHA:137675
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Cone-shaped epiphysis, Short l...	OMIM:617088
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha...	ORPHA:857
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Midface retrusion	OMIM:603457
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Optic nerve hypoplasia	OMIM:236670
8Q24.3 Microdeletion Syndrome	Long toe, Congenital hip dislocation, Short femur, Single transverse palmar crease, Short hallux,...	ORPHA:508488
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Tapered finger, Abnormal toe morphology, Polydactyly, 2-4 toe cutaneous syndactyly...	ORPHA:268261
Joubert Syndrome 39	Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Trichothiodystrophy	Bilateral microphthalmos, Clubbing, Craniosynostosis	ORPHA:33364
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly	ORPHA:17
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Bilateral microphthalmos, Stenosis of the medullary c...	ORPHA:93325
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Simpson-Golabi-Behmel Syndrome, Type 1	Short palm, Broad toe, Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, 2-3 fin...	OMIM:312870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Midface retrusion	OMIM:253280
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth...	OMIM:309000
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Frontal bossing, Polydactyly	OMIM:301022
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Syndactyly, Broad hallux, Deviation of the hallux, Polyhydramnios, Avascular necrosis of the capi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Syndactyly, Broad hallux, Deviation of the hallux, Polyhydramnios, Avascular necrosis of the capi...	ORPHA:353277
Aicardi Syndrome	Microphthalmia, Proximal placement of thumb	OMIM:304050
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Single transverse palmar crease	OMIM:309801
Rabson-Mendenhall Syndrome	Polydactyly	ORPHA:769
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger...	ORPHA:480880
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polydactyly, Absent ...	OMIM:610168
Pmm2-Cdg	Reduced thyroxin-binding globulin, Cataract, Hypoalbuminemia	ORPHA:79318
Cockayne Syndrome	Microphthalmia, Thickened calvaria, Abnormal epiphysis morphology	ORPHA:191
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Faciocardiomelic Syndrome	Slender long bone, Polydactyly, Hypoplastic pelvis	OMIM:612731
Tetraamelia Syndrome 1	Microphthalmia, Hypoplastic pelvis	OMIM:273395
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia	ORPHA:137605
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Holoprosencephaly 2	Microphthalmia, Midface retrusion, Proboscis	OMIM:157170
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna...	OMIM:192350
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Septo-optic dysplasia, Abnormal digit morphology, Optic nerve hypoplasia	ORPHA:95494
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C...	ORPHA:261537
Wiedemann-Rautenstrauch Syndrome	Long toe, Frontal bossing, Short humerus, Short femur, Optic disc hypoplasia, Camptodactyly of fi...	ORPHA:3455
Orofaciodigital Syndrome Xiv	Trigonocephaly, Broad hallux, Preaxial polydactyly, Postaxial hand polydactyly	OMIM:615948
Neurocardiofaciodigital Syndrome	Syndactyly, Polydactyly	OMIM:619869
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Tapered finger, C...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hallux valgus, Frontal bossing, Syndactyly, Ulnar deviation of the hand, Broad hallux, Long toe, ...	ORPHA:261552
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Microcephaly 8, Primary, Autosomal Recessive		OMIM:614673

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 Cep135

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 Cep135.

No publications found that use IMPC mice or data for Cep135.

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MGI Allele	Allele Type	Produced
Cep135^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cep135^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cep135^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cep135^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cep135 MGI:2681869

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Gross Morphology Embryo E12.5

Gross Morphology Embryo E14.5-E15.5

Eye Morphology

Auditory Brain Stem Response

Human diseases caused by Cep135 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data