Gene Summary

centrosomal protein 135
LOC381644,  Cep4

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
edema Cep135em1(IMPC)J HOM E15.5 0.00
abnormal lens morphology Cep135em1(IMPC)J HET   Late adult 5.52×10-05
abnormal craniofacial morphology Cep135em1(IMPC)J HOM E15.5 0.00
decreased circulating serum albumin level Cep135em1(IMPC)J HET Late adult 0.00
cataract Cep135em1(IMPC)J HET Early adult 2.36×10-05
preweaning lethality, complete penetrance Cep135em1(IMPC)J HOM   Early adult 0.00
increased circulating total protein level Cep135em1(IMPC)J HET   Late adult 9.67×10-05
microphthalmia Cep135em1(IMPC)J HOM E12.5 0.00
anophthalmia Cep135em1(IMPC)J HOM E15.5 0.00
polydactyly Cep135em1(IMPC)J HOM E15.5 0.00
abnormal head shape Cep135em1(IMPC)J HOM E15.5 0.00
decreased bone mineral density Cep135em1(IMPC)J HET Early adult 2.44×10-05
facial cleft Cep135em1(IMPC)J HOM E12.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Forepaw

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Gross Morphology Embryo E12.5


3 Images

Gross Morphology Embryo E14.5-E15.5


1 Images

Auditory Brain Stem Response

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

9 Images

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.

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

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

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

Disease Similarity of
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
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
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 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
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
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
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
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
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
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
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
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
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
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