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
preweaning lethality, complete penetrance Cep135em1(IMPC)J HOM   Early adult 0.00
abnormal craniofacial morphology Cep135em1(IMPC)J HOM E15.5 0.00
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
decreased bone mineral density Cep135em1(IMPC)J HET Early adult 2.44×10-05
abnormal head shape Cep135em1(IMPC)J HOM E15.5 0.00
abnormal lens morphology Cep135em1(IMPC)J HET   Late adult 8.18×10-07
facial cleft Cep135em1(IMPC)J HOM E12.5 0.00
decreased circulating serum albumin level Cep135em1(IMPC)J HET Late adult 0.00
cataract Cep135em1(IMPC)J HET   Early adult 4.39×10-05
increased circulating total protein level Cep135em1(IMPC)J HET   Late adult 9.67×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Lateral Orientation

10 Images

Gross Morphology Embryo E12.5


4 Images

Gross Morphology Embryo E14.5-E15.5


5 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Forepaw

10 Images

Eye Morphology

Images Ophthalmoscopy

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
Aldh18A1-Related De Barsy Syndrome
Joint hypermobility, Cataract ORPHA:35664
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... 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
Fryns Microphthalmia Syndrome
Tessier cleft, Microphthalmia, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip OMIM:600776
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Deep palmar crease, Microphthalmia OMIM:600251
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Orofacial cleft, Microphthalmia, Anophthalmia OMIM:611638
Frontonasal Dysplasia 3
Tessier cleft, Microphthalmia, Cleft palate, Brachycephaly OMIM:613456
Cataract 42
Cataract, Developmental cataract OMIM:115900
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, Bilateral microphthalmos, Optic nerve hypoplasia, Brachyturricephaly, Frontal boss... OMIM:607597
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Cataract OMIM:190330
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate, Deviatio... ORPHA:1104
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the humerus, Aplasia/Hypoplasia affecting the eye, Camptodactyly of... ORPHA:1794
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Cerebrooculonasal Syndrome
Tessier cleft, Postaxial hand polydactyly, Anophthalmia, Brachycephaly ORPHA:66625
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Cleft palate, Edema, Talipes equinovarus OMIM:616570
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Abnormal calvaria morphology, Microphthalmia, Median cleft palate ORPHA:2432
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Microphthalmia With Limb Anomalies
Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hy... OMIM:206920
Diarrhea 13
Hypoalbuminemia OMIM:620357
Nathalie Syndrome
Cataract ORPHA:2663
Anencephaly 2
Cleft maxillary alveolar ridge, Median cleft palate, Anophthalmia OMIM:619452
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Mmep Syndrome
Split foot, Orofacial cleft, Microphthalmia, Triphalangeal thumb ORPHA:3434
Meckel Syndrome, Type 8
Polydactyly, Microphthalmia, Anophthalmia, Pericardial effusion, Cleft palate, Talipes equinovarus OMIM:613885
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
X-Linked Retinoschisis
Cataract ORPHA:792
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Decreased HDL cholesterol concentration, Cataract OMIM:618463
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Cleft palate, Upper limb phocomelia, Syndactyly ORPHA:294975
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Clinodactyly of the 5th finger, Postaxial hand polydactyly, Overlapping fingers, S... ORPHA:952
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Microphthalmia, Syndromic 12
Microphthalmia, Cleft palate, Anophthalmia OMIM:615524
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Frontofacionasal Dysplasia
Tessier cleft, Brachycephaly, Microphthalmia, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Foot oligodactyly, Short femur, Bilateral cleft lip OMIM:601357
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft palate, Anophthalmia, Congenital hip dislocation OMIM:164180
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Osteoporosis OMIM:166710
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Bilateral single transverse palmar creases, Brachycephaly, Microphthalmia, Broad t... ORPHA:1236
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Cataract 47
Cataract, Microcornea OMIM:612018
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Carpenter Syndrome
Polydactyly, Genu valgum, Turricephaly, Craniosynostosis, Finger syndactyly, Cloverleaf skull, Po... ORPHA:65759
Mosaic Trisomy 9
Tessier cleft, Rocker bottom foot, Microphthalmia, Finger clinodactyly, Deep palmar crease, Hydro... ORPHA:99776
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
2Q24 Microdeletion Syndrome
Microphthalmia, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenchi... ORPHA:1617
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, 2-3 toe syndactyly, Cleft palate, Short 5th finger, Small thenar eminence OMIM:239800
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Polyhydramnios, Anophthalmia, Postaxial hand polydactyly, Micromelia, Cleft palat... ORPHA:2189
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia... ORPHA:1647
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Hypoalbuminemia OMIM:618805
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly, Polyhydramnios, Abnormally large globe, Abnormal fibular epiphysis morph... ORPHA:96190
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachycephaly, Brachydactyly ORPHA:35099
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Increased bone mineral density OMIM:265880
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... OMIM:620632
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly OMIM:610023
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Supernumerary Nostril
Tessier cleft ORPHA:141096
Trisomy 13
Bilateral single transverse palmar creases, Microphthalmia, Hydrops fetalis, Anophthalmia, Postax... ORPHA:3378
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Microphthalmia, Hydrops fetalis, Foot polydactyly, Short palm ORPHA:268249
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Anophthalmia, Increased nuchal translucency, Arachnodactyly, Cam... ORPHA:261344
Unilateral Ocular Duplication
Polyhydramnios, Midline facial cleft, Frontal bossing, Dolichocephaly, Cleft palate ORPHA:3374
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Achondrogenesis, Type Ii
Short tubular bones of the hand, Brachycephaly, Hydrops fetalis, Polyhydramnios, Abnormally large... OMIM:200610
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Microphthalmia ORPHA:2528
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios, Finger syndactyly, Cleft palate, Toe syndactyly ORPHA:261272
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Hartsfield Syndrome
Microphthalmia, Non-midline cleft of the upper lip, Split hand, Cleft palate, Aplasia/Hypoplasia ... ORPHA:2117
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios, Camptodactyly of finger, Frontal bossing, Symphalangism affecting... ORPHA:2547
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Brachycephaly, Tarsal syn... ORPHA:2633
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Bartsocas-Papas Syndrome 2
Microphthalmia, Prominent occiput, Bilateral cleft palate, Absent distal phalanges, 2-5 finger cu... OMIM:619339
Microphthalmia ORPHA:35612
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Proximal Myotonic Myopathy
Cataract ORPHA:606
Microphthalmia, Syndromic 8
Split foot, Orofacial cleft, Microphthalmia, Cleft palate OMIM:601349
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Acrofacial Dysostosis, Catania Type
Tessier cleft, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger... ORPHA:1786
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Cloverle... ORPHA:93267
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Curry-Jones Syndrome
Microphthalmia, Craniosynostosis, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality o... ORPHA:1553
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... ORPHA:1106
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Proximal placement of thumb, Anophthalmia, Finger syndactyly, Postaxial foot poly... ORPHA:139471
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Summitt Syndrome
Short 4th metacarpal, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Finger syndacty... ORPHA:3210
Temtamy Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Dolichocephaly, Short toe, Brachydactyly, Genu varum ORPHA:1777
Muenke Syndrome
Brachycephaly, Capitate-hamate fusion, Plagiocephaly, Radial deviation of finger, Cone-shaped epi... OMIM:602849
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis OMIM:614416
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft palate OMIM:120433
Frontonasal Dysplasia 2
Brachycephaly, Microphthalmia, Parietal foramina, Tessier number 13 facial cleft, Anterior plagio... OMIM:613451
Xk Aprosencephaly Syndrome
Polyhydramnios, Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness, Cataract, Increased bone density w... OMIM:136300
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia ORPHA:141333
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Microphthalmia, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal bone... ORPHA:306542
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Meckel Syndrome, Type 5
Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Cleft palate, Postaxial foo... OMIM:611561
Nathalie Syndrome
Cataract OMIM:255990
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Brachycephaly, Abnormality... ORPHA:2511
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Turricephaly, Finger syndactyly, Split hand, Micromelia, Cleft palate, Brachydacty... ORPHA:2145
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Reduced bone mineral density, Recurrent fractures, Osteoporosis ORPHA:2410
Cataract 17, Multiple Types
Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea OMIM:611544
Craniofrontonasal Dysplasia
Brachycephaly, Orofacial cleft, Plagiocephaly, Clinodactyly of the 5th finger, Sandal gap, Cranio... ORPHA:1520
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Delayed ossification of carpal bones, Reduced bone mineral density OMIM:618392
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Slender long bone, Trigonocephaly, Decreased calvarial ossification, Cleft palate,... OMIM:618265
Craniotelencephalic Dysplasia
Craniosynostosis, Microphthalmia, Frontal bossing, Septo-optic dysplasia ORPHA:1528
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Kahrizi Syndrome
Cataract, Iris coloboma, Elbow contracture, Knee flexion contracture OMIM:612713
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, H... ORPHA:163649
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calcan... OMIM:300863
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Cleft palate, Frontal ... OMIM:600325
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Craniosynostosis 2
Brachycephaly, Turricephaly, Triphalangeal thumb, Cleft soft palate, Unicoronal synostosis, Bicor... OMIM:604757
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Non-Distal Duplication 10Q
Brachycephaly, Frontal bossing, Aplasia/Hypoplasia affecting the eye ORPHA:1695
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Potocki-Shaffer Syndrome
Brachycephaly, Turricephaly, Single transverse palmar crease, Parietal foramina, 2-5 finger cutan... OMIM:601224
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614876
3Mc Syndrome 3
Tessier cleft, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly OMIM:248340
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Joubert Syndrome 22
2-3 toe syndactyly, Microphthalmia, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:615665
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Pierpont Syndrome
Brachycephaly, Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Excess... ORPHA:487825
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Meckel Syndrome, Type 11
Polydactyly, Oligohydramnios OMIM:615397
Craniotelencephalic Dysplasia
Craniosynostosis, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Braddock-Carey Syndrome 2
Microphthalmia, Cleft palate, Clinodactyly OMIM:619981
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly, Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Cleft pal... OMIM:605282
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Lymphedema, Epiphyseal dysplasia, Frontal bossing, Clinodactyly, Flatte... OMIM:607131
Hypoalbuminemia ORPHA:79327
Constricting Bands, Congenital
Tessier cleft, Hand polydactyly, Cleft palate, Syndactyly, Talipes equinovarus OMIM:217100
Pierpont Syndrome
Brachycephaly, Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Short ... OMIM:602342
Frontonasal Dysplasia 1
Microphthalmia, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand po... OMIM:136760
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Congenital Disorder Of Glycosylation, Type Ij
Cataract, Hypoproteinemia OMIM:608093
Bartsocas-Papas Syndrome 1
Tessier cleft, Microphthalmia, Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, Short metacarp... OMIM:263650
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c... OMIM:604307
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... OMIM:617927
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Abnormal conju... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Abnormal conju... ORPHA:529799
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Microphthalmia, Abnormal metacarpal morphology, Anophthalmia, Abnormal finger morp... ORPHA:2538
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Acromelic Frontonasal Dysostosis
Brachycephaly, Patellar hypoplasia, Midline facial cleft, Parietal foramina, Optic nerve hypoplas... OMIM:603671
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange... ORPHA:94066
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Cerebrooculonasal Syndrome
Brachycephaly, Proboscis, Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Posta... OMIM:605627
Pentasomy X
Plagiocephaly, Clinodactyly of the 5th finger, Camptodactyly of finger, Radioulnar synostosis, Hi... ORPHA:11
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Cleft palate, Anophthalmia OMIM:610125
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Isolated Arrhinia
Tessier cleft, Microphthalmia ORPHA:1134
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Cleft palate OMIM:603194
Septooptic Dysplasia
Polydactyly, Short finger, Optic nerve hypoplasia, Optic disc hypoplasia OMIM:182230
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Neurogenic Arthrogryposis Multiplex Congenita
Rocker bottom foot, Plagiocephaly, Elbow flexion contracture, Wrist flexion contracture, Hip cont... ORPHA:1143
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Hypoplastic iliac wing, Abnormality of the calcaneus, Metaphyseal cup... ORPHA:163966
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria ORPHA:178377
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... OMIM:617102
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Brachycephaly OMIM:615985
Pfeiffer Syndrome Type 1
Brachycephaly, Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Bicoronal synost... ORPHA:93258
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hydrops fetalis, Short long bone, Flat acetabular roof, Bowing of the long bones, As... OMIM:614091
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Microphthalmia ORPHA:324416
Mosaic Trisomy 1
Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyly, Long toe, Deviation of the 5th... ORPHA:1692
Atelosteogenesis Type Ii
Sandal gap, Bilateral cleft palate, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, R... ORPHA:56304
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Stiff Skin Syndrome
Elbow flexion contracture, Camptodactyly, Knee flexion contracture, Cataract, Limited shoulder mo... OMIM:184900
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Aniridia, Anophthalmia, Camptodactyly of finger, Dolichocephaly, Ulnar deviation o... ORPHA:1101
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate OMIM:614402
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pa... OMIM:619721
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
14Q22Q23 Microdeletion Syndrome
Bilateral single transverse palmar creases, Short 4th metacarpal, Brachycephaly, Clinodactyly of ... ORPHA:264200
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Cleft palate, Syndactyly OMIM:300484
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Microcephaly-Micromelia Syndrome
Microphthalmia, Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Cleft pal... OMIM:251230
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Hypoalbuminemia ORPHA:79319
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Bresek Syndrome
Plagiocephaly, Microphthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Cleft palate ORPHA:85284
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Retinitis Pigmentosa 40
Cataract OMIM:613801
Moebius Syndrome
Microphthalmia, Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, C... OMIM:157900
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of the finger joint... OMIM:618821
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Syndactyly OMIM:602501
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa... ORPHA:2756
3P25.3 Microdeletion Syndrome
Brachycephaly, Microphthalmia, Proximal placement of thumb, Broad thumb, Postaxial polydactyly, C... ORPHA:435638
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Sandestig-Stefanova Syndrome
Rocker bottom foot, Orofacial cleft, Bilateral single transverse palmar creases, Microphthalmia, ... OMIM:618804
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Monosomy 18P
Brachycephaly, Microphthalmia, Lymphedema, Cleft palate, Brachydactyly ORPHA:1598
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Hypoalbuminemia ORPHA:507
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Hip subluxation OMIM:620200
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Prominent occiput, Dolichocephaly, ... OMIM:618672
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Talipes equinovarus OMIM:616171
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b... ORPHA:2788
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Cleft palate, Metatarsus valgus, Submucous cleft hard palate ORPHA:899
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
2Q32Q33 Microdeletion Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Broad thumb, Arachnodactyly, Toe clinodactyly, Cle... ORPHA:251019
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Arthrogryposis, Distal, Type 4
Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Single transverse palmar crease, Cran... OMIM:609128
Treacher-Collins Syndrome
Tessier cleft, Brachycephaly, Microphthalmia, Frontal bossing, Cleft palate ORPHA:861
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Microphthalmia, Coronal craniosynostosis, Frontal bossing, Calvarial skull defect,... ORPHA:228390
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Brachycephaly, Finger syndactyly, Hand polydactyly, B... ORPHA:2377
Baraitser-Winter Syndrome 2
Trigonocephaly, Orofacial cleft, Microphthalmia OMIM:614583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Clinodactyly of the 5th finger, Ectrodactyly, Frontal bossing, Cleft palate, Syndact... ORPHA:397590
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Cleft palate ORPHA:1135
Aniridia 3
Cataract, Aniridia OMIM:617142
Cofs Syndrome
Camptodactyly of finger, Microphthalmia ORPHA:1466
Cousin Syndrome
Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl... OMIM:260660
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Roberts Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Radial deviation of finger, Mesomelic... ORPHA:3103
Cornelia De Lange Syndrome 2
Brachycephaly, Limited elbow movement, Proximal placement of thumb, Short foot, Brachydactyly, Cl... OMIM:300590
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Ring Chromosome 10 Syndrome
Frontal bossing, Microphthalmia, Tapered finger, Sandal gap ORPHA:1438
Pelvis-Shoulder Dysplasia
Microphthalmia, Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplas... OMIM:169550
Fraser Syndrome 1
Tessier cleft, Bilateral microphthalmos, Aplasia/Hypoplasia of the thumb, Anophthalmia, Cutaneous... OMIM:219000
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, 3-4 finger syndactyly OMIM:615877
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... OMIM:615986
Holoprosencephaly 1
Tessier cleft, Microphthalmia, Proboscis, Median cleft palate OMIM:236100
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Brachydactyly, Microphthalmia, Cleft soft palate OMIM:614526
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Conjunctival hyperemia, Hyperproteinemia ORPHA:509
Gómez-López-Hernández Syndrome
Brachycephaly, Turricephaly ORPHA:1532
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop... ORPHA:950
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft palate, Microphthalmia ORPHA:1473
Dengue Fever
Hypoproteinemia ORPHA:99828
Pseudodiastrophic Dysplasia
Brachycephaly, Rhizomelia, Camptodactyly, Frontal bossing, Phalangeal dislocation, Elbow dislocat... OMIM:264180
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Oculofaciocardiodental Syndrome
Microphthalmia, Genu valgum, Cubitus valgus, Hammertoe, Clinodactyly of the 5th finger, 2-3 toe s... ORPHA:2712
Achard Syndrome
Brachycephaly, Arachnodactyly, Broad skull OMIM:100700
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia ORPHA:195
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Craniosynostosis, Sandal gap, Biparietal narrowing, Camptodactyly of to... ORPHA:251038
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, Sp... ORPHA:93322
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Cleft palate, Brachydact... OMIM:258860
Chromosome 3Pter-P25 Deletion Syndrome
Brachycephaly, Postaxial polydactyly, Trigonocephaly, Dolichocephaly, Flat occiput, Overlapping t... OMIM:613792
German Syndrome
Brachycephaly, Orofacial cleft, Lymphedema, Camptodactyly of finger, Dolichocephaly ORPHA:2077
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Polyhydramnios, Short long bone, Brachydactyly OMIM:615633
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Meckel Syndrome, Type 10
Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, Frontal bossing, Ulnar deviatio... OMIM:614175
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Ulnar deviation of the wrist, Unilambdoid synostosis, Clinodactyly OMIM:618577
Muenke Syndrome
Brachycephaly, Plagiocephaly, Tarsal synostosis, Short foot, Coronal craniosynostosis, Short palm... ORPHA:53271
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly OMIM:619694
Ivic Syndrome
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H... OMIM:147750
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r... OMIM:609945
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly, Polyhydramnios ORPHA:521390
Robinow-Sorauf Syndrome
Plagiocephaly, Broad thumb, Broad hallux, Pansynostosis, Craniosynostosis, Hallux valgus, Duplica... OMIM:180750
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Orofacial cleft, Plagiocephaly, Increased nuchal translucency ORPHA:77300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Brachycephaly, Hydrops fetalis, Polyhydramnios, Flared metaphysis, Pleural effusion, Ascites, Dec... OMIM:616897
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Hypoproteinemia, Microcoria, Hypoplasia of ... OMIM:609049
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication of thumb phala... OMIM:617926
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Brachycephaly, Microphthalmia, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial poly... ORPHA:404440
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Bicoronal synostosis, Parietal foramina, Right unilam... OMIM:616602
Isolated Ectopia Lentis
Joint stiffness, Ectopia lentis, Ectopia pupillae, Cataract ORPHA:1885
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Acrofrontofacionasal Dysostosis
Brachycephaly, Non-midline cleft of the upper lip, Micromelia, Broad thumb, Short distal phalanx ... ORPHA:1784
6Q25 Microdeletion Syndrome
Rocker bottom foot, Plagiocephaly, Clinodactyly of the 5th finger, Camptodactyly of finger, Cleft... ORPHA:251056
Cornelia De Lange Syndrome 5
Limited elbow extension, Brachycephaly, Clinodactyly of the 5th finger, Proximal placement of thu... OMIM:300882
Bardet-Biedl Syndrome 22
Polydactyly, Postaxial foot polydactyly OMIM:617119
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Sandal gap, Short foot, Clinodactyly, Cleft palate, Tapered finger, Small hand OMIM:618089
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Pos... OMIM:201000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Short long bone, Met... ORPHA:85167
Stevenson-Carey Syndrome
Brachycephaly, Microphthalmia, Camptodactyly, Hip dysplasia, Joint contracture of the hand OMIM:611961
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Microphthalmia OMIM:308350
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Slender long bone, Flared metaphysis, Ascites, Brachydactyly OMIM:602361
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synostosis, Optic nerve hypoplasia, Flat oc... OMIM:618736
Larsen-Like Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Radial deviation of the 4th finger, Frontal bossin... OMIM:608545
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Median cleft palate, Short 3rd metacar... OMIM:169400
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Microphthalmia, Syndromic 6
Polydactyly, Abnormality of the hand, Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finge... OMIM:607932
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Temtamy Syndrome
Microphthalmia, Short 2nd toe, Frontal bossing, Brachydactyly, Talipes equinovarus, Hip dislocation OMIM:218340
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Prominent fingertip pads, Increased nuchal translucency, Cleft palate, Hip dyspla... OMIM:618494
Meckel Syndrome
Microphthalmia, Anophthalmia, Postaxial hand polydactyly, Bowing of the long bones, Cleft palate,... ORPHA:564
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Broad palm, Short palm, Short foot, Plagiocephaly OMIM:614563
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Brachycephaly, Preaxial polydactyly, Bilateral talipes equinovarus, Postaxial polydactyly, Overla... OMIM:618142
2Q31.1 Microdeletion Syndrome
Abnormal fibula morphology, Microphthalmia, Abnormal tibia morphology, Abnormal metacarpal morpho... ORPHA:251014
Cataract 48
Cataract OMIM:618415
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Wolcott-Rallison Syndrome
Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Joubert Syndrome 18
Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Cleft palate, Trident pelvis, Tal... OMIM:614815
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis, Cataract ORPHA:1345
Cochleosaccular Degeneration-Cataract Syndrome