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Gene: Cep135 MGI:2681869

Gene Summary

Name:

centrosomal protein 135

Synonyms:

LOC381644, Cep4

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Cep135^em1(IMPC)J	HOM	Early adult	0.00
edema	Cep135^em1(IMPC)J	HOM	E15.5	0.00
abnormal lens morphology	Cep135^em1(IMPC)J	HET	Late adult	8.18×10^-07
facial cleft	Cep135^em1(IMPC)J	HOM	E12.5	0.00
polydactyly	Cep135^em1(IMPC)J	HOM	E15.5	0.00
decreased bone mineral density	Cep135^em1(IMPC)J	HET	Early adult	2.44×10^-05
abnormal head shape	Cep135^em1(IMPC)J	HOM	E15.5	0.00
decreased circulating serum albumin level	Cep135^em1(IMPC)J	HET	Late adult	0.00
cataract	Cep135^em1(IMPC)J	HET	Early adult	4.39×10^-05
microphthalmia	Cep135^em1(IMPC)J	HOM	E12.5	0.00
increased circulating total protein level	Cep135^em1(IMPC)J	HET	Late adult	9.67×10^-05
abnormal craniofacial morphology	Cep135^em1(IMPC)J	HOM	E15.5	0.00
anophthalmia	Cep135^em1(IMPC)J	HOM	E15.5	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Gross Morphology Embryo E12.5

Images

4 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

5 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Auditory Brain Stem Response

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

9 Images

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Human diseases caused by Cep135 mutations

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

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

Human diseases associated with Cep135 (2 diseases)
Human diseases predicted to be associated with Cep135 (1244 diseases)

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

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

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

Disease	Matching phenotypes	Source
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Aldh18A1-Related De Barsy Syndrome	Cataract, Joint hypermobility	ORPHA:35664
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	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
Fryns Microphthalmia Syndrome	Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia	OMIM:600776
Cataract 44	Developmental cataract	OMIM:616509
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Deep palmar crease, Cleft palate, Microphthalmia	OMIM:600251
Gombo Syndrome	Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia	OMIM:233270
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration	ORPHA:254704
Microphthalmia/Coloboma 5	Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Frontonasal Dysplasia 3	Tessier cleft, Brachycephaly, Cleft palate, Microphthalmia	OMIM:613456
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, Broad proximal phalanges of the hand, Brachyturricephaly, Bilateral microphthalmos...	OMIM:607597
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Trichomegaly	Cataract	OMIM:190330
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Anophthalmia Plus Syndrome	Tessier cleft, Deviation of finger, Anophthalmia, Bilateral cleft palate, Non-midline cleft of th...	ORPHA:1104
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, 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, Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, Brachydactyly, Addu...	ORPHA:1794
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Cerebrooculonasal Syndrome	Tessier cleft, Brachycephaly, Anophthalmia, Postaxial hand polydactyly	ORPHA:66625
Cerebrooculofacioskeletal Syndrome 3	Edema, Talipes equinovarus, Microphthalmia, Rocker bottom foot, Cleft palate	OMIM:616570
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	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, Median cleft palate, Microphthalmia	ORPHA:2432
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Microphthalmia, 2-...	OMIM:206920
Microphthalmia, Isolated 4	Postaxial polydactyly, Microphthalmia	OMIM:613094
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	Orofacial cleft, Triphalangeal thumb, Split foot, Microphthalmia	ORPHA:3434
Meckel Syndrome, Type 8	Anophthalmia, Polydactyly, Talipes equinovarus, Microphthalmia, Pericardial effusion, Cleft palate	OMIM:613885
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
X-Linked Retinoschisis	Cataract	ORPHA:792
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus, Decreased HDL cholesterol concentration	OMIM:618463
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	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	Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest...	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, Aniridia, Microcornea	OMIM:106230
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Cleft palate, Syndactyly	ORPHA:294975
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
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
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Small hand, Overlapping fingers, Postaxial hand polydactyly, Clinodactyly of the 5...	ORPHA:952
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Microphthalmia, Syndromic 12	Anophthalmia, Cleft palate, Microphthalmia	OMIM:615524
Frontofacionasal Dysplasia	Tessier cleft, Brachycephaly, Microphthalmia, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1791
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular 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, Foot oligodactyly, Bilateral cleft palate, Bilateral cleft lip, Short femur	OMIM:601357
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Anophthalmia, Cleft palate, Microphthalmia	OMIM:164180
Osteoporosis	Osteoporosis	OMIM:166710
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	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, Broad thumb, Camptodactyly of finger, Bilateral single transverse palmar creases, ...	ORPHA:1236
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Cataract 47	Cataract, Microcornea	OMIM:612018
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Chylomicron Retention Disease	Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia	OMIM:246700
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip...	ORPHA:93323
Carpenter Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Oxycephaly, Preaxial foot polydactyly, Genu valgu...	ORPHA:65759
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Mosaic Trisomy 9	Tessier cleft, Rocker bottom foot, Elbow dislocation, Finger clinodactyly, Camptodactyly of finge...	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	Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A...	OMIM:600886
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Short 5th finger, 2-3 toe syndactyly, Small thenar eminence, Cleft palate	OMIM:239800
2Q24 Microdeletion Syndrome	Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing...	ORPHA:1617
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Hydrolethalus	Unilateral cleft lip, Micromelia, Anophthalmia, Submucous cleft hard palate, Microphthalmia, Poly...	ORPHA:2189
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Oculocerebrocutaneous Syndrome	Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Cal...	ORPHA:1647
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Cataract	OMIM:618805
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly, Abnormally large globe, Rhizomelic arm shortening, Polyhydramnios, Short...	ORPHA:96190
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ...	OMIM:615297
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Brachydactyly, Metacarpal synostosis	ORPHA:35099
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Pyknoachondrogenesis	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
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Jawad Syndrome	Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ...	OMIM:251255
Immunodeficiency 115 With Autoinflammation	Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce...	OMIM:620632
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Brachydactyly, Syndactyly, Clinodactyly, Microphthalmia	OMIM:610023
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Supernumerary Nostril	Tessier cleft	ORPHA:141096
Trisomy 13	Abnormal pelvic girdle bone morphology, Ectrodactyly, Calvarial skull defect, Aplasia/Hypoplasia ...	ORPHA:3378
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Trisomy 1Q	Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Increased nuchal translucency...	ORPHA:261344
Mycophenolate Mofetil Embryopathy	Tessier cleft, Orofacial cleft, Microphthalmia, Foot polydactyly, Hydrops fetalis, Short palm	ORPHA:268249
Unilateral Ocular Duplication	Frontal bossing, Polyhydramnios, Dolichocephaly, Midline facial cleft, Cleft palate	ORPHA:3374
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Achondrogenesis, Type Ii	Abnormally large globe, Edema, Broad long bones, Short tubular bones of the hand, Hypoplastic ili...	OMIM:200610
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia	OMIM:241600
Microcephaly-Microcornea Syndrome, Seemanova Type	Brachycephaly, Microphthalmia	ORPHA:2528
17Q12 Microduplication Syndrome	Toe syndactyly, Finger syndactyly, Microphthalmia, Polyhydramnios, Cleft palate	ORPHA:261272
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Hartsfield Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Microphthalmia, Craniosynostosis, Non-midline cleft...	ORPHA:2117
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Microphthalmia, Polyhydramnios, Frontal bossing, Symphalangism affecting...	ORPHA:2547
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Bartsocas-Papas Syndrome 2	Small hand, Prominent occiput, Absent distal phalanges, Bilateral cleft palate, Bilateral cleft l...	OMIM:619339
Nanophthalmos	Microphthalmia	ORPHA:35612
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Microphthalmia, Syndromic 8	Orofacial cleft, Split foot, Cleft palate, Microphthalmia	OMIM:601349
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Acrofacial Dysostosis, Catania Type	Tessier cleft, Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Brachyd...	ORPHA:1786
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Plagiocephaly, Syndactyly, Tapered finger	OMIM:618725
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bon...	ORPHA:93267
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Keratoconus, Increased serum bile acid concentration, Conjunctivitis, Decreased ...	OMIM:242150
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Gaisböck Syndrome	Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin...	ORPHA:90041
Hemophagocytic Syndrome Associated With An Infection	Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:158048
Curry-Jones Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Foot polydactyly, Abno...	ORPHA:1553
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ...	ORPHA:1106
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmia, Proximal placement o...	ORPHA:139471
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Summitt Syndrome	Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Genu valgum, Clinodactyly of the 5th f...	ORPHA:3210
Temtamy Syndrome	Short toe, Clinodactyly of the 5th finger, Brachydactyly, Microphthalmia, Dolichocephaly, Genu varum	ORPHA:1777
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Plagiocephaly, Clinodactyly, Short middle phalanx of toe, ...	OMIM:602849
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Craniosynostosis	OMIM:614416
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Microphthalmia	OMIM:120433
Frontonasal Dysplasia 2	Parietal foramina, Tessier number 13 facial cleft, Oligohydramnios, Calvarial skull defect, Anter...	OMIM:613451
Xk Aprosencephaly Syndrome	Polyhydramnios, Abnormal morphology of the radius, Microphthalmia	ORPHA:3469
Flynn-Aird Syndrome	Cataract, Joint stiffness, Increased bone density with cystic changes, Osteoporosis, Increased bo...	OMIM:136300
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Biemond Syndrome Type 2	Preaxial polydactyly, Microphthalmia	ORPHA:141333
Congenital Varicella Syndrome	Micromelia, Microphthalmia	ORPHA:291
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Hypoplasia of the frontal bone, Finger clinodactyly, Camptodactyly of finger, Pect...	ORPHA:306542
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Nathalie Syndrome	Cataract	OMIM:255990
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Microphthalmia,...	OMIM:611561
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Cone-shaped epiphysis, Unilateral cleft lip, Abnormality of the wrist, Bilateral single transvers...	ORPHA:2511
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly	OMIM:615984
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Oligohydramnios, Turricephaly, Brachycephaly, Brachydactyly, Split...	ORPHA:2145
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Cataract, Reduced bone mineral density, Recurrent fractures	ORPHA:2410
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Autoinflammation With Infantile Enterocolitis	Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati...	OMIM:616050
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Craniofrontonasal Dysplasia	Plagiocephaly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Clinodactyly of the 5th fi...	ORPHA:1520
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Reduced bone mineral density, Delayed ossification of carpal bones	OMIM:618392
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Slender long bone, Trigonocephaly, Decreased calvarial ossification, Nonimmune hyd...	OMIM:618265
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Craniotelencephalic Dysplasia	Craniosynostosis, Septo-optic dysplasia, Frontal bossing, Microphthalmia	ORPHA:1528
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Kahrizi Syndrome	Cataract, Iris coloboma, Knee flexion contracture, Elbow 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	Slender finger, Hemiatrophy of upper limb, Anterior plagiocephaly, Wide proximal femoral metaphys...	ORPHA:163649
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ...	OMIM:300863
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Arachnodactyly, Brachycephaly, Brachyda...	OMIM:600325
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Craniosynostosis 2	Unicoronal synostosis, Trigonocephaly, Cleft soft palate, Bicoronal synostosis, Turricephaly, Bra...	OMIM:604757
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
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	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Potocki-Shaffer Syndrome	Parietal foramina, Single transverse palmar crease, Turricephaly, Brachycephaly, 2-5 finger cutan...	OMIM:601224
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract, Epiphyseal stippling	OMIM:614876
3Mc Syndrome 3	Tessier cleft, Clinodactyly, Preaxial polydactyly, Radioulnar synostosis, Cleft palate	OMIM:248340
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Joubert Syndrome 22	2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthalmia	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
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Pierpont Syndrome	Short toe, Prominent fingertip pads, Short finger, Excessive wrinkling of palmar skin, Brachyceph...	ORPHA:487825
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Meckel Syndrome, Type 11	Oligohydramnios, Polydactyly	OMIM:615397
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Craniotelencephalic Dysplasia	Craniosynostosis, Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Braddock-Carey Syndrome 2	Clinodactyly, Cleft palate, Microphthalmia	OMIM:619981
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metat...	OMIM:605282
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hypertriglyceridemia	OMIM:619013
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Clinodactyly, Lymphedema, Genu valgum, Polydactyly, Flattened epiphysis, Fr...	OMIM:607131
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Constricting Bands, Congenital	Tessier cleft, Talipes equinovarus, Hand polydactyly, Cleft palate, Syndactyly	OMIM:217100
Pierpont Syndrome	Short toe, Prominent fingertip pads, Short finger, Brachycephaly, Deep palmar crease, Broad palm,...	OMIM:602342
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Frontonasal Dysplasia 1	Joint contracture of the hand, Clinodactyly, Radial deviation of finger, Pectoral muscle hypoplas...	OMIM:136760
Congenital Disorder Of Glycosylation, Type Ij	Cataract, Hypoproteinemia	OMIM:608093
Bartsocas-Papas Syndrome 1	Tessier cleft, Hypoplastic scapulae, Absent thumb, Short thumb, Absent radius, Hypoplastic iliac ...	OMIM:263650
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c...	OMIM:604307
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ...	OMIM:617927
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju...	ORPHA:529808
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	Aplastic clavicle, Plagiocephaly, Elbow dislocation, Short thumb, Ectrodactyly, Abnormal morpholo...	ORPHA:2538
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Acromelic Frontonasal Dysostosis	Parietal foramina, Short tibia, Preaxial hand polydactyly, Patellar hypoplasia, Preaxial foot pol...	OMIM:603671
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange...	ORPHA:94066
Cerebrooculonasal Syndrome	Proboscis, Anophthalmia, Postaxial polydactyly, Brachycephaly, Postaxial hand polydactyly, Cranio...	OMIM:605627
Pentasomy X	Small hand, Plagiocephaly, Camptodactyly of finger, Radioulnar synostosis, Hip dysplasia, Clinoda...	ORPHA:11
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Fanconi Anemia, Complementation Group J	Short thumb, Microphthalmia	OMIM:609054
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Cleft palate, Microphthalmia	OMIM:610125
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, Bowing of the long bones, Postaxial hand polydactyly, Microphthalmia, Cleft palate	OMIM:603194
Septooptic Dysplasia	Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia	OMIM:182230
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Neurogenic Arthrogryposis Multiplex Congenita	Plagiocephaly, Elbow flexion contracture, Scaphocephaly, Oligohydramnios, Acetabular dysplasia, H...	ORPHA:1143
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w...	ORPHA:163966
Immunodeficiency 27A	Hypoalbuminemia	OMIM:209950
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Craniosynostosis, Brachycephaly	ORPHA:178377
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H...	ORPHA:247585
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph...	OMIM:617102
Pfeiffer Syndrome Type 1	Toe syndactyly, Broad thumb, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t...	ORPHA:93258
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Ascites, Polydactyly...	OMIM:614091
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Brachycephaly	OMIM:615985
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Orofacial cleft, Microphthalmia	ORPHA:324416
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, ...	ORPHA:1692
Atelosteogenesis Type Ii	Elbow dislocation, Genu valgum, Bilateral cleft palate, Broad phalanx, Bilateral talipes equinova...	ORPHA:56304
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Stiff Skin Syndrome	Cataract, Elbow flexion contracture, Knee flexion contracture, Limited shoulder movement, Camptod...	OMIM:184900
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Ulnar deviation of finger, Plagiocephaly, Camptodactyly of finger, Aniridia, Anophthalmia, Talipe...	ORPHA:1101
Microphthalmia, Syndromic 11	Cleft palate, Microphthalmia	OMIM:614402
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Broad thumb, Plagiocephaly, Prominent fingertip pads, Genu valgum, Clinodactyly of the 5th finger...	OMIM:619721
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	ORPHA:2070
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Anophthalmia, Bilat...	ORPHA:264200
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Cleft palate, Polydactyly	OMIM:300484
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly	OMIM:615982
Adenylosuccinate Lyase Deficiency	Brachycephaly, Flat occiput	ORPHA:46
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Absent radius, Oligodactyly, Oligohydramnios, Humeroradial...	OMIM:251230
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Achondrogenesis Type 2	Cataract, Absent vertebral body mineralization, Delayed pubic bone ossification, Delayed proximal...	ORPHA:93296
Bresek Syndrome	Plagiocephaly, Postaxial hand polydactyly, Microphthalmia, Cleft palate, Optic nerve hypoplasia	ORPHA:85284
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Hypoproteinemia	OMIM:226300
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Rhizomelic Limb Shortening With Dysmorphic Features	Short 5th finger, Rhizomelia, Plagiocephaly, Prominent fingertip pads, Short thumb, Single transv...	OMIM:618821
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Syndactyly, Microphthalmia	OMIM:602501
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Lymphoproliferative Syndrome, X-Linked, 1	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	OMIM:308240
3P25.3 Microdeletion Syndrome	Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, Brachycephaly, 2-3 finger synd...	ORPHA:435638
Sandestig-Stefanova Syndrome	Clinodactyly, Trigonocephaly, Bilateral single transverse palmar creases, Orofacial cleft, Microp...	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	Lymphedema, Brachycephaly, Brachydactyly, Microphthalmia, Cleft palate	ORPHA:1598
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Leishmaniasis	Hypoalbuminemia	ORPHA:507
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Hip subluxation	OMIM:620200
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci...	ORPHA:88618
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat...	OMIM:603553
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Small hand, Plagiocephaly, Prominent occiput, Clinodactyly of the 5th finger, Brachycephaly, Hip ...	OMIM:618672
Joubert Syndrome 40	Postaxial polydactyly, Optic nerve hypoplasia	OMIM:619582
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Talipes equinovarus, Microphthalmia	OMIM:616171
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Osteoporosis-Pseudoglioma Syndrome	Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,...	ORPHA:2788
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Walker-Warburg Syndrome	Metatarsus valgus, Anophthalmia, Submucous cleft hard palate, Microphthalmia, Cleft palate	ORPHA:899
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia	OMIM:608776
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
2Q32Q33 Microdeletion Syndrome	Toe clinodactyly, Broad thumb, Arachnodactyly, Talipes equinovarus, Brachycephaly, Broad hallux p...	ORPHA:251019
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Arthrogryposis, Distal, Type 4	Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes, Single tra...	OMIM:609128
Treacher-Collins Syndrome	Tessier cleft, Brachycephaly, Microphthalmia, Frontal bossing, Cleft palate	ORPHA:861
Isolated Aniridia	Cataract, Aniridia, Peters anomaly	ORPHA:250923
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Coronal craniosynostosis, Oligohydramnios, Calvarial skull defect, Brachycephaly, Microphthalmia,...	ORPHA:228390
Laurence-Moon Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, Brachycephaly, 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
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Macrophage Activation Syndrome	Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer...	ORPHA:158061
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Oligohydramnios, Polydactyly, Clinodactyly of the 5th finger, Fro...	ORPHA:397590
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Cleft palate, Microphthalmia	ORPHA:1135
Aniridia 3	Cataract, Aniridia	OMIM:617142
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis...	OMIM:260660
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Cofs Syndrome	Camptodactyly of finger, Microphthalmia	ORPHA:1466
Cornelia De Lange Syndrome 2	Small hand, Clinodactyly, Limited elbow movement, Brachycephaly, Brachydactyly, Short foot, Proxi...	OMIM:300590
Avian Influenza	Elevated circulating C-reactive protein concentration, Conjunctivitis, Elevated circulating creat...	ORPHA:454836
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm...	ORPHA:3103
Ring Chromosome 10 Syndrome	Tapered finger, Frontal bossing, Sandal gap, Microphthalmia	ORPHA:1438
Fraser Syndrome 1	Tessier cleft, Bilateral microphthalmos, Cutaneous finger syndactyly, Calvarial skull defect, Wid...	OMIM:219000
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short...	OMIM:169550
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
Holoprosencephaly 1	Tessier cleft, Median cleft palate, Proboscis, Microphthalmia	OMIM:236100
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Cleft soft palate, Brachydactyly, Microphthalmia	OMIM:614526
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Leptospirosis	Conjunctival hyperemia, Hyperproteinemia	ORPHA:509
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Gómez-López-Hernández Syndrome	Brachycephaly, Turricephaly	ORPHA:1532
Acrodysostosis	Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor...	ORPHA:950
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Pseudodiastrophic Dysplasia	Rhizomelia, Elbow dislocation, Talipes equinovarus, Brachycephaly, Phalangeal dislocation, Campto...	OMIM:264180
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Bilateral cleft palate, Microphthalmia	ORPHA:1473
Dengue Fever	Hypoproteinemia	ORPHA:99828
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Reni Syndrome	Hypoalbuminemia, Hypertriglyceridemia	OMIM:617575
Achard Syndrome	Arachnodactyly, Brachycephaly, Broad skull	OMIM:100700
Oculofaciocardiodental Syndrome	Short thumb, Genu valgum, Flexion contracture of the 4th toe, Submucous cleft hard palate, 2-3 to...	ORPHA:2712
Cat-Eye Syndrome	Hip dysplasia, Microphthalmia	ORPHA:195
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Microphthalmia, Craniosynostosis, Bip...	ORPHA:251038
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Orofaciodigital Syndrome Iv	Toe syndactyly, Clinodactyly, Short tibia, Short finger, Postaxial polydactyly, Hand polydactyly,...	OMIM:258860
Chromosome 3Pter-P25 Deletion Syndrome	Trigonocephaly, Overlapping toe, Postaxial polydactyly, Macular hypoplasia, Brachycephaly, Tapere...	OMIM:613792
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Polyhydramnios, Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
German Syndrome	Camptodactyly of finger, Lymphedema, Brachycephaly, Orofacial cleft, Dolichocephaly	ORPHA:2077
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Meckel Syndrome, Type 10	Postaxial foot polydactyly, Postaxial polydactyly, Ulnar deviation of the hand, Postaxial hand po...	OMIM:614175
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Clinodactyly, Unilambdoid synostosis, Brachycephaly, Ulnar deviation of the wrist	OMIM:618577
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Cone-shaped epiphysis, Carpal synostosis, Brachycephaly,...	ORPHA:53271
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Developmental Delay With Variable Neurologic And Brain Abnormalities	Camptodactyly, Cubitus valgus, Down-sloping shoulders, Microphthalmia	OMIM:619694
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Robinow-Sorauf Syndrome	Broad thumb, Plagiocephaly, Broad hallux, Duplication of the distal phalanx of the hallux, Hallux...	OMIM:180750
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Polyhydramnios, Plagiocephaly	ORPHA:521390
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Talipes equinovar...	OMIM:609945
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Fractured radius, Unilateral cleft lip, Flared metaphysis, Ascites, Decreased fibular diameter, P...	OMIM:616897
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Orofacial cleft, Increased nuchal translucency, Plagiocephaly	ORPHA:77300
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body...	OMIM:609049
Orofaciodigital Syndrome Xvii	Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd...	OMIM:617926
Craniosynostosis 6	Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal...	OMIM:616602
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac...	ORPHA:404440
Isolated Ectopia Lentis	Cataract, Joint stiffness, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract	OMIM:614292
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac...	ORPHA:1784
6Q25 Microdeletion Syndrome	Plagiocephaly, Camptodactyly of finger, Clinodactyly of the 5th finger, Rocker bottom foot, Cleft...	ORPHA:251056
Cornelia De Lange Syndrome 5	Small hand, Toe syndactyly, Limited elbow extension, Brachycephaly, Clinodactyly of the 5th finge...	OMIM:300882
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Small hand, Plagiocephaly, Clinodactyly, Sandal gap, Short foot, Cleft palate, Tapered finger	OMIM:618089
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ...	ORPHA:85167
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Stevenson-Carey Syndrome	Joint contracture of the hand, Microphthalmia, Brachycephaly, Hip dysplasia, Camptodactyly	OMIM:611961
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c...	ORPHA:26793
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Microphthalmia	OMIM:308350
Pelger-Huet Anomaly	Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Median cleft palate, Polydact...	OMIM:169400
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Ascites, Aniridia, Brachydactyly, Microphthalmia	OMIM:602361
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Optic nerve hypoplasia, Bicoronal synostosis, Brachycephaly, Flat oc...	OMIM:618736
Larsen-Like Syndrome	Radial deviation of the 4th finger, Talipes equinovarus, Brachycephaly, Bipartite calcaneus, Clin...	OMIM:608545
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia	ORPHA:247353
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Microphthalmia	ORPHA:77298
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Plagiocephaly, Toe syndactyly, Finger syndactyly, Thumb contracture,...	OMIM:607932
Temtamy Syndrome	Talipes equinovarus, Brachydactyly, Microphthalmia, Short 2nd toe, Frontal bossing, Hip dislocation	OMIM:218340
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Overlapping toe, Oligohydramnios, Increased nuchal translucency, Overla...	OMIM:618494
Meckel Syndrome	Postaxial foot polydactyly, Preaxial hand polydactyly, Oligohydramnios, Aplasia/Hypoplasia of the...	ORPHA:564
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Short foot, Plagiocephaly, Broad palm, Short palm	OMIM:614563
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Overlapping fingers, Overlapping toe, Postaxial polydactyly, Brachycephaly,...	OMIM:618142
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology...	ORPHA:251014
Cataract 48	Cataract	OMIM:618415
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia	ORPHA:1667
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Joubert Syndrome 18	Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial polydactyly, Camptodacty...	OMIM:614815
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc	OMIM:617093
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly	OMIM:309545
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract, Joint stiffness, Osteoarthritis	ORPHA:1345
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Intellectual Developmental Disorder, Autosomal Dominant 23	Postaxial polydactyly, Brachycephaly, Sandal gap, Broad distal phalanx of finger	OMIM:615761
Clark-Baraitser Syndrome	Dolichocephaly, Brachycephaly, Clinodactyly, Sandal gap	OMIM:617752
Meckel Syndrome, Type 3	Postaxial hand polydactyly, Postaxial foot polydactyly, Cleft palate, Polydactyly	OMIM:607361
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Nasopalpebral Lipoma-Coloboma Syndrome	Dolichocephaly, Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Meckel Syndrome 14	Postaxial foot polydactyly, Oligohydramnios, Increased nuchal translucency, Decreased calvarial o...	OMIM:619879
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Elbow flexion contracture, Second metatarsal posteriorly placed, C...	OMIM:214150
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:540
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Flexion contracture of toe, Finger joint contracture, Microphthalmia	ORPHA:48431
Curry-Jones Syndrome	Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot ...	OMIM:601707
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal...	OMIM:302960
Warburg Micro Syndrome 1	Overlapping toe, Microphthalmia	OMIM:600118
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Joint contracture of the 5th finger, Joint contracture of the 4th finger, 2-3 toe syn...	OMIM:618914
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Joubert Syndrome 27	Frontal bossing, Polydactyly	OMIM:617120
Congenital Toxoplasmosis	Ascites, Microphthalmia	ORPHA:858
Chromosome 3Q13.31 Deletion Syndrome	Dolichocephaly, Brachycephaly, Plagiocephaly, Proximal placement of thumb	OMIM:615433
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly	OMIM:300699
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Ascites, Absent hand, Calvarial skull defect, ...	ORPHA:974
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia	ORPHA:367
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus, Brachycephaly	OMIM:619972
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Metaphyseal cupping, Plagiocephaly, Short middle phalanx of finge...	OMIM:618853
Vacterl With Hydrocephalus	Anophthalmia, Hypoplasia of the radius, Microphthalmia, Polyhydramnios, Hip dislocation	ORPHA:3412
Hoxha-Aliu Syndrome	Short fifth metatarsal, Short distal phalanx of finger, Abnormal epiphysis morphology, Short 4th ...	OMIM:620662
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Arachnodactyly, Talipes equinovarus, Brachycephaly, Camptodactyly, Adducted thumb, Bilateral tali...	OMIM:615539
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Cranial asymmetry, Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia	ORPHA:137634
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Decreased calvarial ossification, ...	OMIM:617866
Pde4D Haploinsufficiency Syndrome	Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short middle phalanx of f...	ORPHA:439822
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Abnormal...	ORPHA:93271
Antley-Bixler Syndrome	Camptodactyly of finger, Femoral bowing, Turricephaly, Arachnodactyly, Brachycephaly, Elbow ankyl...	ORPHA:83
Nephronophthisis 15	Polydactyly	OMIM:614845
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Prominent occiput, Postaxial polydactyly, Brachydactyly, Hypoplasia...	OMIM:617895
Contractural Arachnodactyly, Congenital	Ulnar deviation of finger, Elbow flexion contracture, Scaphocephaly, Limited elbow extension, Hip...	OMIM:121050
Adams-Oliver Syndrome 2	Oligohydramnios, Absent distal phalanges, Single transverse palmar crease, Microphthalmia, Short ...	OMIM:614219
Coffin-Siris Syndrome 6	Plagiocephaly, Clinodactyly, Brachydactyly, Frontal bossing, Cleft palate	OMIM:617808
Cerebrooculofacioskeletal Syndrome 4	Slender long bone, Bilateral microphthalmos, Camptodactyly of finger, Flared metaphysis, Elbow fl...	OMIM:610758
Bardet-Biedl Syndrome 19	Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly	OMIM:615996
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, Wide pubi...	OMIM:620073
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Meckel Syndrome, Type 4	Bowing of the long bones, Postaxial hand polydactyly, Cleft palate, Microphthalmia	OMIM:611134
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Toe syndactyly, Turricephaly, Bowing of the long bones, Radioulnar synostosis, Brachycephaly, Cra...	ORPHA:171839
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Turricephaly, Brachycephaly, Abnormal metacarpal morphology, Brachydactyly, Frontal bossing	ORPHA:93262
Congenital Heart Defects And Ectodermal Dysplasia	2-3 toe cutaneous syndactyly, Brachycephaly, Broad thumb, Frontal bossing	OMIM:617364
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Plagiocephaly, Arachnodactyly, Brachycephaly, Clinodactyly of the 5th finger	OMIM:619910
Martsolf Syndrome 1	Broad femoral neck, Short toe, Slender ulna, Avascular necrosis of the capital femoral epiphysis,...	OMIM:212720
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Brachycephaly, Tapered finger	ORPHA:352530
Linear Skin Defects With Multiple Congenital Anomalies 2	Sandal gap, Microphthalmia	OMIM:300887
Joubert Syndrome 37	Postaxial polydactyly, Frontal bossing, Microphthalmia	OMIM:619185
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Oligohydramnios, Single transverse palmar crease, Microphthalmia	OMIM:619053
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Bowing of the long bone...	ORPHA:2097
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract	OMIM:193230
Alkuraya-Kucinskas Syndrome	Hand clenching, Plagiocephaly, Clinodactyly, Overlapping toe, Overlapping fingers, Pleural effusi...	OMIM:617822
Congenital Muscular Dystrophy, Fukuyama Type	Dolichocephaly, Brachycephaly, Plagiocephaly, Camptodactyly of finger	ORPHA:272
Weill-Marchesani Syndrome	Cataract, Limitation of joint mobility, Ectopia lentis	ORPHA:3449
Cockayne Syndrome Type 2	Anophthalmia	ORPHA:90322
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Trigonocephaly, Talipes equinovarus, Microphthalmia, Dolichocephaly, Frontal bossing,...	OMIM:612530
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Plagiocephaly, Clinodactyly, Bilateral microphthalmos, Brachycephaly, Abnormality of the hand, Ca...	ORPHA:369891
Xfe Progeroid Syndrome	Hypoalbuminemia, Corneal scarring	OMIM:610965
Lissencephaly 8	Talipes equinovarus, Microphthalmia	OMIM:617255
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Plagiocephaly, Clinodactyly of the 5th finger, Brachycephaly, Bra...	ORPHA:2163
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Cubitus valgu...	ORPHA:1327
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han...	OMIM:615994
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,...	OMIM:259600
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Bilateral microphthalmos, Camptodactyly of finger, Meso...	ORPHA:2839
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Partial duplication of the distal phalanx ...	OMIM:101400
Endocrine-Cerebroosteodysplasia	Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Median cleft palate, Tibial bowing,...	OMIM:612651
Cebalid Syndrome	Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly	OMIM:618774
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Cataract, Opacification of the corneal stroma, Hypoplasia of the iris	OMIM:251300
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Hypernatremia	OMIM:615508
Vulto-Van Silfhout-De Vries Syndrome	2-3 toe cutaneous syndactyly, Brachycephaly, Frontal bossing, Prominent fingertip pads	OMIM:615828
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cleft palate, Anophthalmia, Submucous cleft hard palate, Microphthalmia	ORPHA:2250
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Broad distal phalanx of finger, Enlarged interphalangeal joints, Palmar edema, Abnormality of the...	ORPHA:2988
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co...	ORPHA:14
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration	OMIM:251880
Premature Aging Syndrome, Okamoto Type	Osteoporosis, Cataract	OMIM:601811
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly	ORPHA:231140
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hypokalemia	OMIM:174900
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Small hand, 2-4 toe cutaneous syndactyly, Broad long bo...	OMIM:257850
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Cleft palate	OMIM:618603
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Teebi-Shaltout Syndrome	Caudal appendage, Scaphocephaly, Single transverse palmar crease, Turricephaly, Talipes equinovar...	OMIM:272950
Pallister-Hall Syndrome	Mesomelia, Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Y-shaped metacarpals...	OMIM:146510
Focal Dermal Hypoplasia	Toe syndactyly, Anophthalmia, Microphthalmia, Foot polydactyly, Short metacarpal, Aniridia, Brach...	OMIM:305600
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru...	OMIM:617156
Holoprosencephaly	Median cleft palate, Anophthalmia, Bilateral cleft lip, Hand polydactyly, Brachydactyly, Micropht...	ORPHA:2162
Cataract-Intellectual Disability-Hypogonadism Syndrome	Brachycephaly, Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, Abnormali...	ORPHA:1387
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract, Joint stiffness	ORPHA:1366
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Optic disc hypoplasia, Apla...	ORPHA:959
Baraitser-Winter Syndrome 1	Trigonocephaly, Orofacial cleft, Duplication of phalanx of hallux, Microphthalmia	OMIM:243310
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Brachycephaly	OMIM:612247
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Brachycephaly, Microphthalmia,...	OMIM:201180
Malan Overgrowth Syndrome	Plagiocephaly, Optic disc hypoplasia, Slender long bone, Scaphocephaly, Frontal bossing	ORPHA:420179
Kury-Isidor Syndrome	Finger syndactyly, Talipes equinovarus, Brachycephaly, Brachydactyly, Hip dysplasia, Rocker botto...	OMIM:619762
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Femoral bowing, Tibial bowing, ...	OMIM:608940
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly, Sandal gap	OMIM:615516
Craniodigital-Intellectual Disability Syndrome	Brachycephaly, Finger syndactyly	ORPHA:1514
Kapur-Toriello Syndrome	Joint contracture of the hand, Short thumb, Camptodactyly of finger, Overlapping fingers, Bilater...	OMIM:244300
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hyperalaninemia	OMIM:618329
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Polyhydramnios, Brachycephaly, Increased nuchal translucency, Plagiocephaly	OMIM:618862
Heart And Brain Malformation Syndrome	Hand clenching, Camptodactyly of finger, Prominent occiput, Microphthalmia, Polyhydramnios	OMIM:616920
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Plagiocephaly, Clinodactyly, Talipes equinovarus, Brachycephaly, Frontal bossing	OMIM:616789
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Flat occiput, Lymphedema	OMIM:152950
Even-Plus Syndrome	Epiphyseal dysplasia, Brachycephaly, Oligohydramnios, Dysplasia of the femoral head	OMIM:616854
ERI1-related disease	Slender metacarpals, Trigonocephaly, Oligodactyly, Clinodactyly of the 5th finger, Limited elbow ...	OMIM:608739
Houge-Janssens Syndrome 2	Plagiocephaly, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hip dysplasia	OMIM:616362
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia	OMIM:617303
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Frontal bossing, Broad hallux, Single transverse palmar crease, Microphthalmia	OMIM:614105
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Gillessen-Kaesbach-Nishimura Syndrome	Oligohydramnios, Brachycephaly, Narrow greater sciatic notch, Ulnar deviation of the hand, Short ...	OMIM:263210
Apert Syndrome	Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal b...	OMIM:101200
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina	ORPHA:52022
Cerebrooculofacioskeletal Syndrome 2	Rocker bottom foot, Camptodactyly of finger, Microphthalmia	OMIM:610756
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Overlapping toe, Microphthalmia, Dolichocephaly, Frontal bossing, Cleft palate	OMIM:618571
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Talipes equinovarus, Radioulnar synostosis, Broad distal phalan...	OMIM:245600
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Plagiocephaly, Genu valgum, Delay...	OMIM:620099
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia	OMIM:606744
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Oculopalatocerebral Syndrome	Cleft palate, Microphthalmia	OMIM:257910
Fetal Alcohol Syndrome	Biparietal narrowing, Non-midline cleft of the upper lip, Cleft palate, Microphthalmia	ORPHA:1915
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Acrofrontofacionasal Dysostosis 2	Broad thumb, Broad hallux, Brachycephaly, Hand polydactyly, Syndactyly	OMIM:239710
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Optic disc hypoplasia, Short thumb, Shoulder dislocat...	OMIM:607323
Osteopathia Striata-Cranial Sclerosis Syndrome	High iliac wing, Coarse metaphyseal trabecularization, Facial hyperostosis, Abnormal metaphysis m...	ORPHA:2780
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Frontal bossing	OMIM:615085
Wieacker-Wolff Syndrome, Female-Restricted	Radial deviation of the hand, Hip contracture, Talipes equinovarus, Brachycephaly, Polyhydramnios...	OMIM:301041
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Prominent fingertip pads, Joint contracture of the 5th finger, Single transverse palmar crease, 2...	OMIM:620098
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Skull asymmetry, Submucous cleft hard palate, Single transverse palmar crease, 2-3 toe syndactyly...	OMIM:614701
Intellectual Developmental Disorder, Autosomal Dominant 26	Clinodactyly of the 5th finger, Brachycephaly, Decreased palmar creases	OMIM:615834
Warburg Micro Syndrome 2	Overlapping toe, Clinodactyly of the 5th toe, Brachycephaly, Microphthalmia, Clinodactyly of the ...	OMIM:614225
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Small hand, Trigonocephaly, Scaphocephaly, Bilateral single transverse palmar creases, Brachyceph...	ORPHA:459061
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Rheumatoid arthritis, Band keratopathy, Joint hypermobility, Knee osteoarthritis, Oligo...	ORPHA:85410
Multiple Benign Circumferential Skin Creases On Limbs	Upper limb asymmetry, Cleft palate, Edema, Microphthalmia	ORPHA:2505
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
2Q23.1 Microdeletion Syndrome	Sandal gap, Brachycephaly, Hip dysplasia, Clinodactyly of the 5th finger, Short palm	ORPHA:228402
8Q12 Microduplication Syndrome	Brachycephaly, Short foot	ORPHA:228399
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Microphthalmia, Frontal bossing, Optic nerve hypoplasia	OMIM:206900
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Abnormally large globe, Frontal bossing	OMIM:603387
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Broad thumb, Toe syndactyly, Hyperextensibility of the finger joints, Overlapping toe, Arachnodac...	ORPHA:505237
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Frontal bossing, Microphthalmia	OMIM:617306
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Hand clenching, Sandal gap, Broad hallux, Anophthalmia, Submucous c...	OMIM:300166
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho...	OMIM:615503
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
1Q21.1 Microdeletion Syndrome	Broad thumb, Toe syndactyly, Clinodactyly of the 5th finger, Talipes equinovarus, Hand polydactyl...	ORPHA:250989
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Hip contracture, Brachycephaly, Frontal bossing, Tapered finger	OMIM:616801
Chromosome 13Q33-Q34 Deletion Syndrome	Short thumb, Trigonocephaly, Overlapping toe, Distally placed thumb, Single transverse palmar cre...	OMIM:619148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Lessel-Kreienkamp Syndrome	Clinodactyly of the 5th finger, Scaphocephaly, Plagiocephaly, Frontal bossing	OMIM:619149
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Plagiocephaly, Sandal gap, Brachycephaly, Clinodactyly of the 5th finger, Frontal bossing, Tapere...	OMIM:618430
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Rieger anomaly, Hip dislocation, Coxa valga	OMIM:109120
Cleidocranial Dysplasia	Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu...	ORPHA:1452
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypoplastic ischia, Polydactyly	OMIM:616910
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Nance-Horan Syndrome	Short metacarpal, Microphthalmia	ORPHA:627
Skin Creases, Congenital Symmetric Circumferential, 1	Long fingers, Brachycephaly, Cleft palate, Microphthalmia	OMIM:156610
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Ulnar bowing, Hypoplasia of t...	OMIM:619135
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero...	OMIM:207410
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Cataract, Microphakia	ORPHA:171844
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Hemiatrophy...	ORPHA:2215
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly	OMIM:618859
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hypocholesterolemia	OMIM:212065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab...	ORPHA:37042
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia	OMIM:619487
Al Amyloidosis	Hypoalbuminemia, Increased circulating NT-proBNP concentration	ORPHA:85443
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Decreased calvarial ossification, Fibular hypoplasia, Postaxia...	OMIM:617925
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplastic pelvis, Fibular...	OMIM:616300
Lujan-Fryns Syndrome	Arachnodactyly, Brachycephaly, Brachydactyly, Camptodactyly of finger	ORPHA:776
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Microphthalmia, Clinodact...	ORPHA:1352
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly, Microphthalmia	OMIM:612379
Chromosome 17P13.1 Deletion Syndrome	Plagiocephaly, Broad hallux, Elbow flexion contracture, Long hallux, Oligohydramnios, Turricephal...	OMIM:613776
Inverted Duplicated Chromosome 15 Syndrome	2-3 toe syndactyly, Talipes equinovarus, Brachycephaly, Brachydactyly, Clinodactyly of the 5th fi...	ORPHA:3306
Garg-Mishra Progeroid Syndrome	Slender long bone, Slender metacarpals, Microphthalmia, Broad palm, Coxa valga	OMIM:620601
Chromosome 2Q37 Deletion Syndrome	Short toe, Type E brachydactyly, Brachycephaly, Short fourth metatarsal, Short phalanx of finger,...	OMIM:600430
Smith-Magenis Syndrome	Abnormal forearm morphology, Brachycephaly, Orofacial cleft, Brachydactyly, Broad palm, Short palm	OMIM:182290
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly	ORPHA:64754
Joubert Syndrome 23	Polydactyly	OMIM:616490
Alg12-Cdg	Hyponatremia, Hypocholesterolemia, Hypoalbuminemia	ORPHA:79324
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short distal phalanx of finger, Abnormally large globe, Plagiocephaly, Short toe, Cleft palate, D...	OMIM:239300
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Bilateral single transverse palmar creases, Microphthalmia	ORPHA:3191
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microphthalmia, Edema	ORPHA:2526
20P13 Microdeletion Syndrome	Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly	ORPHA:313781
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Chromosome 5P13 Duplication Syndrome	Single transverse palmar crease, Turricephaly, Brachycephaly, Large hands, Long fingers, Craniosy...	OMIM:613174
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Polydactyly, Down-sloping shoulders, Short 4th me...	OMIM:109400
Nabais Sa-De Vries Syndrome, Type 1	Clinodactyly of the 5th finger, Brachycephaly, Optic nerve hypoplasia	OMIM:618828
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Fanconi Anemia, Complementation Group S	Proximal placement of thumb, Clinodactyly, Microphthalmia	OMIM:617883
Trisomy 9P	Bilateral single transverse palmar creases, Brachycephaly, Brachydactyly, Clinodactyly of the 5th...	ORPHA:236
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Craniosynostosis, Brachycephaly, Frontal bossing	ORPHA:314575
Laurence-Moon Syndrome	Abnormality of the hand, Polydactyly	OMIM:245800
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma	OMIM:216820
Cranioectodermal Dysplasia 3	2-4 toe syndactyly, Rhizomelia, Sandal gap, Scaphocephaly, 2-3 toe syndactyly, Postaxial polydact...	OMIM:614099
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly	ORPHA:320385
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Elbow dislocation, Brachydactyly, Postaxial hand polydactyly, Clinodactyly of the ...	ORPHA:2916
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Corneal opacity	ORPHA:79396
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Clinodactyly, Broad hallux, 3-4 toe syndactyly, Brachydactyly, Microphthalmia	OMIM:618727
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Slender long bone, Thin calvarium, Tibial bowing, Corneal stromal...	OMIM:601812
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Orofacial cleft, Microphthalmia, Polyhydramnios, Septo-o...	ORPHA:3301
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Frontal bossing	OMIM:618330
Orofaciodigital Syndrome Type 6	Finger clinodactyly, Frontal bossing, Preaxial polydactyly, Hand polydactyly, Mesoaxial polydacty...	ORPHA:2754
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Abnormality of iro...	OMIM:222470
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Finger syndactyly, Sandal gap, Clinodactyly of the 5th finger, Brachycephaly, D...	ORPHA:254346
Kleefstra Syndrome 2	Plagiocephaly	OMIM:617768
Sweeney-Cox Syndrome	Short distal phalanx of finger, Median cleft palate, 2-4 finger syndactyly, Short clavicles, Brac...	OMIM:617746
Chédiak-Higashi Syndrome	Iris hypopigmentation, Increased circulating ferritin concentration, Hyponatremia, Hypertriglycer...	ORPHA:167
Noonan Syndrome 13	Plagiocephaly, Clinodactyly, Lymphedema, Overlapping toe, Limited elbow extension, Cubitus valgus...	OMIM:619087
Wilson Disease	Hypouricemia, Hypoalbuminemia, Sunflower cataract, Kayser-Fleischer ring, Hyperbilirubinemia, Inc...	OMIM:277900
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Nasopalpebral Lipoma-Coloboma Syndrome	Dolichocephaly, Clinodactyly of the 5th finger, Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Broad thumb, Overlapping toe, Down-sloping shoulders, Talipes equinovarus, Brachycephaly, Tapered...	OMIM:617452
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Marden-Walker Syndrome	Joint contracture of the hand, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Microp...	OMIM:248700
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Micropht...	OMIM:153400
Saethre-Chotzen Syndrome	Broad thumb, Plagiocephaly, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral single t...	ORPHA:794
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Talipes equinovarus, Plagiocephaly	OMIM:617481
Fanconi Anemia, Complementation Group R	Absent thumb, Radial dysplasia, Microphthalmia	OMIM:617244
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Small hand, Microphthalmia, Short foot, Frontal bossing, Short palm	OMIM:241410
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly	OMIM:615031
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Short clavicles, Brachy...	OMIM:603116
Ritscher-Schinzel Syndrome 1	Brachycephaly, Prominent occiput, Cleft palate, Syndactyly	OMIM:220210
Cooper-Jabs Syndrome	Frontal bossing, Camptodactyly of finger, Abnormal hip bone morphology, Brachycephaly, Proximal p...	ORPHA:1488
Trisomy 18	Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Prominent occiput, Ol...	ORPHA:3380
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly	OMIM:309541
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Craniofacial Dyssynostosis With Short Stature	Abnormal shape of the occiput, Brachycephaly, Frontal bossing, Brachyturricephaly	OMIM:218350
Richieri-Costa/Guion-Almeida Syndrome	Palmoplantar cutis laxa, Brachycephaly, Cleft palate, Abnormal digit morphology	OMIM:268850
Recombinant Chromosome 8 Syndrome	Camptodactyly, Clinodactyly of the 5th finger, Brachycephaly, Joint contracture of the hand	OMIM:179613
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Clinodactyly of...	ORPHA:96148
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Small hand, Plagiocephaly, Elbow flexion contracture, Tapered distal phalanges of finger, Hip con...	ORPHA:371364
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Orofacial cleft, Microp...	ORPHA:568
Chromosome 15Q11.2 Deletion Syndrome	Slender finger, Plagiocephaly, Clinodactyly, Short finger, Single transverse palmar crease, Arach...	OMIM:615656
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Joubert Syndrome 16	Polydactyly	OMIM:614465
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	2-3 toe syndactyly, Brachycephaly, Long fingers, Tapered finger	OMIM:218000
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Brachyturricephaly, Aplasia/Hypoplasia of the p...	ORPHA:1225
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
19P13.13 Microdeletion Syndrome	Clinodactyly, Sandal gap, Increased nuchal translucency, Brachycephaly, Long fingers, Dolichoceph...	ORPHA:357001
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci...	ORPHA:90363
Tarp Syndrome	Clinodactyly, Oligohydramnios, Single transverse palmar crease, Postaxial polydactyly, Talipes eq...	OMIM:311900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Broad hallux, Anterior plagiocephaly, Left unicoronal synostosis, Shortening of al...	OMIM:614749
Band Heterotopia	Plagiocephaly	OMIM:600348
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Neurooculocardiogenitourinary Syndrome	Abnormality of the palmar creases, Microphthalmia	OMIM:618652
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly, Abnormality of the wrist, Abnormal femur morphology, Abnormal fibula morphology, H...	ORPHA:2063
Cockayne Syndrome Type 1	Anophthalmia	ORPHA:90321
Basel-Vanagaite-Smirin-Yosef Syndrome	Deviation of the 2nd finger, Clinodactyly, Finger syndactyly, Overlapping toe, Overlapping finger...	ORPHA:464738
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Aplasia of the distal phalanges of the hand, Microph...	ORPHA:3472
Fibrochondrogenesis	Hypoplastic scapulae, Plagiocephaly, Micromelia, Abnormal diaphysis morphology, Camptodactyly of ...	ORPHA:2021
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Mesomelia, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly,...	OMIM:263520
Frontorhiny	Finger clinodactyly, Camptodactyly of finger, Brachydactyly, Microphthalmia, Cleft palate	ORPHA:391474
Cree Impaired Intellectual Development Syndrome	Brachycephaly, Cleft soft palate, Rocker bottom foot, Cutaneous finger syndactyly	OMIM:606851
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Brachycephaly, Brachydactyly, Clinodactyly of the 5th finger, Biparietal narrowi...	ORPHA:1292
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Prominent occiput, Biparietal narrowing, Microphthalmia, Frontal bossing	ORPHA:2612
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Rieger anomaly, Brachycephaly, Tapered finger, Long fingers, Buphthalmos, Calcaneovalgus deformit...	ORPHA:521445
Momo Syndrome	Bilateral microphthalmos, Femoral bowing, Short sternum, Brachycephaly, Large hands, Congenital p...	ORPHA:2563
Charge Syndrome	Bifid femur, Abnormal tibia morphology, Anophthalmia, Polydactyly, Brachydactyly, Microphthalmia,...	ORPHA:138
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Brachycephaly, Microphthalmia	OMIM:614222
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly, Cleft palate	OMIM:300958
Primary Biliary Cholangitis	Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch...	ORPHA:186
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the radius, Microphthalmia, Optic ...	OMIM:609053
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fifth metatarsal, Increased carrying angle, Plagiocephaly, 2-3 toe syndactyly, Clinodactyly...	OMIM:261990
Congenital Sialidosis Type 2	Ascites, Hypoplasia of the fovea, Edema, Polydactyly	ORPHA:93400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Conjunctivitis	ORPHA:505248
Nance-Horan Syndrome	Short phalanx of finger, Broad finger, Microphthalmia	OMIM:302350
Prune1-Related Neurological Syndrome	Bilateral talipes equinovarus, Plagiocephaly	ORPHA:544469
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Abnormal cir...	ORPHA:2298
Holoprosencephaly 9	Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Postaxial hand polydac...	OMIM:610829
Crouzon Syndrome	Brachycephaly, Frontal bossing, Multiple suture craniosynostosis, Turricephaly	ORPHA:207
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Rere-Related Neurodevelopmental Syndrome	Hip dysplasia, Frontal bossing, Microphthalmia	ORPHA:494344
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly	OMIM:619927
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Suleiman-El-Hattab Syndrome	Brachydactyly, Clinodactyly, Single transverse palmar crease, Polydactyly	OMIM:618950
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Brachycephaly, Brachydacty...	OMIM:614800
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty...	ORPHA:90652
Blepharophimosis-Impaired Intellectual Development Syndrome	Short distal phalanx of finger, Plagiocephaly, Talipes equinovarus, Hip dysplasia, Clinodactyly o...	OMIM:619293
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Myoclonic-Astatic Epilepsy	Syndactyly, Microphthalmia	ORPHA:1942
Rhombencephalosynapsis	Finger syndactyly, Polydactyly, Short phalanx of finger, Septo-optic dysplasia, Complete duplicat...	ORPHA:59315
Refsum Disease	Hammertoe, Abnormal epiphysis morphology, Short metacarpal, Microphthalmia	ORPHA:773
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly	ORPHA:93950
Smith-Magenis Syndrome	Toe syndactyly, Brachycephaly, Hand polydactyly, Brachydactyly, Clinodactyly of the 5th finger, F...	ORPHA:819
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Short 5th finger, Small hand, Plagiocephaly, Toe syndactyly, Single transverse palmar crease, Lim...	OMIM:610759
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Cerebellar Ataxia-Hypogonadism Syndrome	Clinodactyly of the 5th finger, Brachycephaly	ORPHA:1173
Chopra-Amiel-Gordon Syndrome	Brachycephaly, Cleft palate	OMIM:619504
X-Linked Dominant Chondrodysplasia Punctata	Epiphyseal stippling, Talipes equinovarus, Neonatal epiphyseal stippling, Microphthalmia, Frontal...	ORPHA:35173
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Acetabular dysplasia, Hip dysplasia, Polyhydramnios, Hammertoe, Coxa valga	OMIM:619833
Cohen Syndrome	Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Narrow palm, Arachnodac...	ORPHA:193
Joubert Syndrome 14	Postaxial polydactyly, Cleft palate, Microphthalmia	OMIM:614424
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Calvarial skull defect, Wide pubic symphysis, Anophthalmia, Or...	ORPHA:2052
Pontocerebellar Hypoplasia, Type 3	Brachycephaly	OMIM:608027
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Cartilage-Hair Hypoplasia	Mesomelia, Small hand, Abnormal pelvic girdle bone morphology, Rhizomelia, Micromelia, Abnormal d...	ORPHA:175
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly	OMIM:611560
Holoprosencephaly 7	Unilateral cleft lip, Bilateral microphthalmos, Median cleft palate, Bilateral cleft palate, Bila...	OMIM:610828
Pfeiffer Syndrome Type 3	Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Brachyturricephaly, Hallux varus, Sho...	ORPHA:93260
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
48,Xxxy Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Down-sloping shoulders, Talipes equinovarus, Br...	ORPHA:96263
Proboscis Lateralis	Proboscis, Anophthalmia, Orofacial cleft, Microphthalmia, Optic nerve hypoplasia	ORPHA:141099
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Talipes equinovarus, Brachycephaly, Adducted thumb, Frontal bossing, ...	OMIM:219150
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th...	ORPHA:221120
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Ulnar deviation of the hand or of fingers of the hand, Arachnodactyly, Talipes equinovarus, Brach...	ORPHA:562528
Ritscher-Schinzel Syndrome 4	Plagiocephaly, Narrow palm, Brachycephaly, Ulnar deviation of the hand, Hip dysplasia, Hip disloc...	OMIM:619435
Humeroradial Synostosis	Brachycephaly, Humeroradial synostosis	OMIM:236400
Developmental And Epileptic Encephalopathy 65	Plagiocephaly	OMIM:618008
Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal cupping, Hip contracture, Bowing of the long bones, Metaphyseal chondrodysplasia, Bra...	OMIM:156400
Hypomandibular Faciocranial Dysostosis	Trigonocephaly, Brachycephaly, Polyhydramnios, Craniosynostosis, Cleft palate	ORPHA:1790
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, 2-3 finger syndactyly, Hypoplasia of the radius, Microphthalmia, Polyh...	OMIM:603467
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Foot polydactyly, Aplasia/Hypoplasia of the thumb, Orofacial cleft, Hypoplasia of the radius, Hyp...	ORPHA:3186
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft pal...	ORPHA:1827
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Warburg Micro Syndrome 4	Brachycephaly, Microphthalmia	OMIM:615663
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ...	OMIM:247200
Chromosome 8Q21.11 Deletion Syndrome	Short metacarpal, Microphthalmia, Camptodactyly, Absent palmar crease, Cleft palate, Syndactyly	OMIM:614230
Intellectual Developmental Disorder, Autosomal Dominant 74	Brachycephaly	OMIM:620688
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Hip dysplasia, Polydactyly	ORPHA:531151
Steinfeld Syndrome	Median cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypoplasia of the...	OMIM:184705
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Hallermann-Streiff Syndrome	Slender long bone, Thin calvarium, Scaphocephaly, Parietal bossing, Brachycephaly, Abnormality of...	OMIM:234100
Weill-Marchesani Syndrome 1	Microspherophakia, Broad phalanges of the hand, Brachycephaly, Brachydactyly, Broad metacarpals, ...	OMIM:277600
Joubert Syndrome 2	Postaxial foot polydactyly, Postaxial hand polydactyly, Microphthalmia, Dolichocephaly, Frontal b...	OMIM:608091
Myhre Syndrome	Cone-shaped epiphysis, Clinodactyly, Short toe, Short finger, Radial deviation of finger, Hypopla...	OMIM:139210
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Brachycephaly	OMIM:615419
Congenital Fibrinogen Deficiency	Clubbing of fingers, Microphthalmia	ORPHA:335
Charge Syndrome	Bifid femur, Short thumb, Absent radius, Unilateral microphthalmos, Anophthalmia, Down-sloping sh...	OMIM:214800
49,Xxxxy Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Down-sloping shoulders, Talipes equinovarus, Br...	ORPHA:96264
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Oligohydramnios, Brachydactyly, Microphthalmia, Cle...	ORPHA:364577
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly, Brachydactyly, Submucous cleft hard palate, Tapered finger	OMIM:619680
Frank-Ter Haar Syndrome	Abnormally large globe, Flared metaphysis, Bowing of the long bones, Talipes equinovarus, Brachyc...	OMIM:249420
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Iris coloboma, Buphthalmos	OMIM:212550
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Cleft palate, Microphthalmia	ORPHA:2728
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Arachnodactyly, Brachycephaly, Metatarsus adductus, Camptodactyly,...	OMIM:612513
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arachnodactyly, Talipes equinovarus,...	ORPHA:95699
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal stippling, Neonatal e...	OMIM:101800
Monosomy 9Q22.3	Palmar pits, Trigonocephaly, Polydactyly, Orofacial cleft, Microphthalmia	ORPHA:77301
20Q11.2 Microduplication Syndrome	Trigonocephaly, Clinodactyly of the 5th finger, Limited elbow extension, Brachycephaly, Deep palm...	ORPHA:363659
Kapur-Toriello Syndrome	Orofacial cleft, Microphthalmia	ORPHA:2328
Fg Syndrome Type 1	Plagiocephaly, Finger syndactyly, Clinodactyly of the 2nd finger, Prominent occiput, Abnormal thu...	ORPHA:93932
Desanto-Shinawi Syndrome	Brachycephaly	OMIM:616708
Gomez-Lopez-Hernandez Syndrome	Craniosynostosis, Brachycephaly, Skull asymmetry, Turricephaly	OMIM:601853
Cranioectodermal Dysplasia 2	Mesomelia, Rhizomelia, Plagiocephaly, Clinodactyly, Frontal bossing, Polydactyly, Dolichocephaly,...	OMIM:613610
Phosphoribosylaminoimidazole Carboxylase Deficiency	Polyhydramnios, Talipes equinovarus, Brachycephaly, Clinodactyly of the 5th finger	OMIM:619859
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Duane Retraction Syndrome	Plagiocephaly, Optic disc hypoplasia, Preaxial hand polydactyly, Aniridia, Talipes equinovarus, A...	ORPHA:233
Oculo-Palato-Cerebral Syndrome	Small hand, Short foot, Cleft palate, Microphthalmia	ORPHA:2714
Chromosome 6Pter-P24 Deletion Syndrome	Brachycephaly, Broad toe, Hip dysplasia, Short 2nd toe, Clinodactyly of the 5th finger, Rocker bo...	OMIM:612582
Craniofrontonasal Syndrome	Coronal craniosynostosis, Toe syndactyly, 3-4 finger syndactyly, Broad hallux, Down-sloping shoul...	OMIM:304110
Focal Dermal Hypoplasia	Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph...	ORPHA:2092
Apert Syndrome	Toe syndactyly, Broad thumb, Brachyturricephaly, Finger syndactyly, Micromelia, Aplasia/Hypoplasi...	ORPHA:87
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, Median cleft palate, 2-3 toe syndactyly, Postaxial hand polydactyly, ...	OMIM:264480
Trichothiodystrophy 3, Photosensitive	Trigonocephaly, Microphthalmia	OMIM:616395
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly, Small hand	OMIM:620149
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Mend Syndrome	Broad hallux, Overlapping toe, Overlapping fingers, 2-3 toe syndactyly, Hand polydactyly, Long fi...	ORPHA:401973
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly	ORPHA:70472
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ...	ORPHA:99826
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Toe syndactyly, Plagiocephaly, Broad thumb, Single transverse palmar crease, Frontal bossing, Tap...	OMIM:619720
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Carpal synostosis, Patellar aplasia, Limited elbow movement, Aphalan...	OMIM:218600
3Q29 Microdeletion Syndrome	Tapered finger, Clinodactyly of the 5th finger, Orofacial cleft, Microphthalmia	ORPHA:65286
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Plagiocephaly, Acromesomelia	ORPHA:500159
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Congenital hip dislocation, Joint contracture of the hand, Ulnar deviation of the 2nd finger, Uln...	ORPHA:456312
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Sandal gap, Camptodactyly of finger, Bilateral single transverse palmar creases...	ORPHA:261349
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Polyhydramnios, Brachycephaly, Plagiocephaly, Frontal bossing	OMIM:617296
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly	OMIM:618731
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bilateral cleft lip, Unilateral microphthalmos, Adducted thumb, Bilateral cleft palate	OMIM:618874
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Long hallux, Single transverse palmar crease, Narrow palm, Thickened calvaria, Talipes equinovaru...	OMIM:309583
Orofaciodigital Syndrome V	Postaxial foot polydactyly, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Fronta...	OMIM:174300
Branchiooculofacial Syndrome	Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Clinodactyly of the 5th finger...	OMIM:113620
Basel-Vanagaite-Smirin-Yosef Syndrome	2-3 toe syndactyly, Single transverse palmar crease, Cleft palate, Microphthalmia	OMIM:616449
Menkes Disease	Brachycephaly, Metaphyseal spurs, Metaphyseal widening	OMIM:309400
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Clinodactyly, Broad hallux, Oxycephaly, Tr...	OMIM:614188
Monosomy 9P	Trigonocephaly, Abnormality of the tarsal bones, Calvarial skull defect, Bilateral single transve...	ORPHA:261112
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Intellectual Developmental Disorder, Autosomal Dominant 64	Clinodactyly of the 5th finger, Plagiocephaly, Prominent fingertip pads, Single transverse palmar...	OMIM:619188
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Broad thumb, Plagiocephaly, Short thumb, Broad hallux, Turricephaly, Hip dysplasia, Bilateral tal...	OMIM:620224
Al Kaissi Syndrome	Brachycephaly, Clinodactyly, Deep palmar crease, Small hand	OMIM:617694
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Plagiocephaly, Clinodactyly, Prominent fingertip pads...	OMIM:305450
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Adnp Syndrome	Broad thumb, Plagiocephaly, Sandal gap, Broad hallux, Trigonocephaly, Single transverse palmar cr...	ORPHA:404448
Fryns Syndrome	Short distal phalanx of finger, Microphthalmia, Polyhydramnios, Clinodactyly of the 5th finger, N...	ORPHA:2059
Monosomy 13Q14	Finger syndactyly, Trigonocephaly, Aplasia/Hypoplasia of the thumb, Brachydactyly, Microphthalmia...	ORPHA:1587
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ...	ORPHA:1798
Fetal Trimethadione Syndrome	Brachycephaly, Bilateral single transverse palmar creases	ORPHA:1913
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Craniosynostosis, Plagiocephaly, Brachydactyly, Cleft palate	ORPHA:457193
Xq28 (MECP2) duplication	Brachycephaly	DECIPHER:45
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Overlapping toe, Plagiocephaly, Overlapping fingers, Flat occiput	OMIM:619383
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
Kawasaki Disease	Elevated circulating C-reactive protein concentration, Conjunctivitis, Conjunctival hyperemia, Hy...	ORPHA:2331
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Hyperphosphatasia-Intellectual Disability Syndrome	Plagiocephaly, Clinodactyly, Oligohydramnios, Brachycephaly, Hip dysplasia, Shortening of all dis...	ORPHA:247262
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Small hand, Postaxial polydactyly, Brachycephaly, Hip dysplasia, Short foot, Hip dislocation, Cle...	OMIM:300968
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Microspherophakia, Broad phalanges of the hand, Short finger, Elbow f...	OMIM:608328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Rodrigues Blindness	Microphthalmia	OMIM:268320
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Trisomy 20P	Plagiocephaly, Finger syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Abnormal hi...	ORPHA:261318
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Orofacial cleft, Postaxial hand polydactyly, Polyhydramnios, Cleft palate	ORPHA:2166
Stromme Syndrome	Preaxial polydactyly, Optic nerve hypoplasia, Cleft palate, Microphthalmia	OMIM:243605
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia	OMIM:613658
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Aplastic clavicle, Plagiocephaly, Parietal foramina, Brachycephaly, Tar...	ORPHA:85199
Galloway-Mowat Syndrome 4	Plagiocephaly, Tapered finger	OMIM:617730
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Ca...	OMIM:270400
Choanal Atresia	Craniosynostosis, Polydactyly	ORPHA:137914
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hypoplastic ilia, Plagiocephaly, Dysplasia of the femoral head, Oligohydramnios, Acetabular dyspl...	ORPHA:536467
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Oligohydramnios	OMIM:615824
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Plagiocephaly, Clinodactyly, Prominent occiput, Camptodactyly, Polyhydramnios	OMIM:617360
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen...	ORPHA:284160
Oculodentodigital Dysplasia	Clinodactyly, 3-4 toe syndactyly, Joint contracture of the 5th finger, Cubitus valgus, 4-5 finger...	OMIM:164200
Intellectual Disability-Strabismus Syndrome	Joint contracture of the hand, Plagiocephaly, Talipes equinovarus, Congenital finger flexion cont...	ORPHA:363528
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Clubbing of toes, Toe syndactyly, Aplasia/Hypoplasia of the radius...	ORPHA:84
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Turricephaly, Talipes equinovarus, Polyhydramnios, Frontal bossing, Tapered finger	OMIM:613603
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Short finger, Oligohydramnios, Submucous cleft soft...	OMIM:608670
Houge-Janssens Syndrome 3	Plagiocephaly, Frontal bossing, Single transverse palmar crease	OMIM:618354
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Epiphyseal stippling, Knee flexion contracture, Hip contracture	OMIM:118650
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly	OMIM:620240
Hamamy Syndrome	Clinodactyly of the 5th finger, Down-sloping shoulders, Brachycephaly, Long toe, Tapered finger, ...	OMIM:611174
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, Brachycephaly, Os...	ORPHA:371428
Mosaic Variegated Aneuploidy Syndrome	Ascites, Increased nuchal translucency, Microphthalmia, Polyhydramnios, Clinodactyly of the 5th f...	ORPHA:1052
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Finger clinodactyly, Brachycephaly, Brachydactyly, Camptodactyly, Rocker bottom foot, Cleft palat...	OMIM:601353
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia	ORPHA:370959
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly, Short foot, Sandal gap, Small hand	OMIM:618885
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Plagiocephaly, Optic nerve hypoplasia, Genu valgum, Cubitus valgus, Metatarsus adduct...	ORPHA:300570
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Brachycephaly, Short foot	OMIM:300260
Ohdo Syndrome, X-Linked	Clinodactyly, Short thumb, Overlapping toe, Long thumb, Ulnar deviation of the hand, Microphthalm...	OMIM:300895
Cartilage-Hair Hypoplasia	Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Femoral bowing, Limited elbow extens...	OMIM:250250
Neu-Laxova Syndrome 1	Generalized edema, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly...	OMIM:256520
Loeys-Dietz Syndrome 5	Cleft soft palate, Arachnodactyly, Talipes equinovarus, Brachycephaly, Increased arm span, Bilate...	OMIM:615582
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Peau d'orange, Hip dysplasia	OMIM:614576
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Postaxial polydactyly, Polyhydramnios, Hydro...	OMIM:616546
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Brachycephaly, Abnormal metacarpal morphology, Short distal phalanx of ...	ORPHA:2095
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Frontofacionasal Dysplasia	Brachycephaly, Orofacial cleft, Hypoplasia of the frontal bone, Microphthalmia	OMIM:229400
Primary Sclerosing Cholangitis	Hypoalbuminemia	ORPHA:171
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short 5th finger, Broad thumb, Broad hallux, Preaxial hand polydactyly, Overlapping toe, 2-3 toe ...	ORPHA:508498
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Hyperparathyroidism, Transient Neonatal	Fractured rib, Metaphyseal spurs, Femoral bowing, Brachycephaly, Short long bone, Polyhydramnios,...	OMIM:618188
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ...	OMIM:123500
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormal finger morphology, Abnormal toe morphology, Cranial asymmetry	OMIM:163200
Intellectual Developmental Disorder, Autosomal Dominant 1	Sandal gap, Brachycephaly, Hip dysplasia, Clinodactyly of the 5th finger, Short foot, Frontal bos...	OMIM:156200
Neurofaciodigitorenal Syndrome	Plagiocephaly, Abnormal distal phalanx morphology of finger, Brachycephaly, Abnormal metacarpal m...	ORPHA:2673
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Plagiocephaly, Submucous cleft hard palate, Contracture of the proxim...	ORPHA:457279
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Frontal bossing, Adducted thumb, Microphthalmia	OMIM:614643
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H...	OMIM:619991
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly, Brachydactyly	OMIM:619995
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hand clenching, Clubbing of toes, Plagiocephaly, Elbow dislocation, Arachnodactyly, Metaphyseal w...	OMIM:620083
Microphthalmia, Syndromic 1	Joint contracture of the hand, Clinodactyly, Prominent fingertip pads, Radial deviation of finger...	OMIM:309800
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Joubert Syndrome 21	Anophthalmia	OMIM:615636
Fanconi Anemia, Complementation Group E	Absent thumb, Short thumb, Absent radius, Microphthalmia, Complete duplication of thumb phalanx	OMIM:600901
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Plagiocephaly, Tapered finger	ORPHA:261652
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly	OMIM:615989
Dihydropyrimidinase Deficiency	Talipes equinovarus, Plagiocephaly, Short phalanx of finger	OMIM:222748
Aymé-Gripp Syndrome	Plagiocephaly, Reduced arm span, Clinodactyly of the 5th finger, Radioulnar synostosis, Brachycep...	ORPHA:1272
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Au-Kline Syndrome	Plagiocephaly, Overlapping toe, Clinodactyly of the 5th finger, Postaxial polydactyly, Dolichocep...	OMIM:616580
Carpenter Syndrome 2	Broad thumb, Preaxial polydactyly, Oxycephaly, Trigonocephaly, Cutaneous finger syndactyly, Clino...	OMIM:614976
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Microphthalmia	ORPHA:2556
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Absent thumb, Short thumb, Microphthalmia	OMIM:610832
Marshall Syndrome	Genu valgum, Thickened calvaria, Brachycephaly, Frontal bossing, Cleft palate	ORPHA:560
Arthrogryposis And Ectodermal Dysplasia	Joint contracture of the hand, Brachycephaly, Orofacial cleft, Camptodactyly, Cleft palate	OMIM:601701
Raine Syndrome	Plagiocephaly, Brachyturricephaly, Micromelia, Long hallux, Bowing of the long bones, Brachycepha...	OMIM:259775
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly, Single transverse palmar crease, Submucous cleft hard palate	OMIM:618106
Orofaciodigital Syndrome I	Clinodactyly, Radial deviation of finger, Polydactyly, Brachydactyly, Short 2nd toe, Dolichocepha...	OMIM:311200
Momo Syndrome	Short sternum, Brachycephaly, Frontal bossing, Large hands	OMIM:157980
White-Sutton Syndrome	Broad thumb, Brachycephaly, Brachydactyly, Cleft palate, Optic nerve hypoplasia	OMIM:616364
Hallermann-Streiff Syndrome	Small hand, Brachycephaly, Microphthalmia, Clinodactyly of the 5th finger, Short foot, Frontal bo...	ORPHA:2108
Intellectual Developmental Disorder, Autosomal Dominant 48	Plagiocephaly	OMIM:617751
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Jacobsen Syndrome	Trigonocephaly, Macular hypoplasia, Brachydactyly, Microphthalmia, Clinodactyly of the 5th finger...	OMIM:147791
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Absent radius, Microphthalmia, Complete duplication of thumb phalanx	OMIM:227650
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe...	ORPHA:672
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small hand, Short thumb, Talipes equinovarus, Forearm reduction defec...	OMIM:268400
Lig4 Syndrome	Clinodactyly of the 5th finger, Brachycephaly, Biparietal narrowing	ORPHA:99812
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Clinodactyly, Radial deviation of finger, Camptodactyly of finger, Ol...	OMIM:249000
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Rhizomelic arm shortening, Proximal femoral metaphyseal irregularity, Abno...	ORPHA:397715
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Clinodactyly of the 5th finger, Single transverse palmar crease, Microphthalmia,...	OMIM:613884
Oculocerebrofacial Syndrome, Kaufman Type	Arachnodactyly, Brachycephaly, Flat occiput	ORPHA:2707
Incontinentia Pigmenti	Deviation of finger, Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent...	ORPHA:464
Atelis Syndrome 2	Frontal bossing, Clinodactyly, Single transverse palmar crease, Microphthalmia	OMIM:620185
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Frontal bossing	OMIM:608688
Fryns Syndrome	Short distal phalanx of finger, Joint contracture of the hand, Chylothorax, Prominent fingertip p...	OMIM:229850
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Broad hallux, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th finger...	ORPHA:457284
Peroxisome Biogenesis Disorder 12A (Zellweger)	Scaphocephaly, Cranial asymmetry	OMIM:614886
Trichohepatoneurodevelopmental Syndrome	Plagiocephaly, Overlapping toe, Fibular bowing, Talipes equinovarus, Brachycephaly, Bilateral cox...	OMIM:618268
Mend Syndrome	Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Macular hypo...	OMIM:300960
Osteogenesis Imperfecta, Type Xi	Brachycephaly, Protrusio acetabuli, Coxa vara	OMIM:610968
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Brachycephaly, Broad hallux phalanx, F...	ORPHA:2211
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal...	ORPHA:91495
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia	OMIM:619381
Aicardi Syndrome	Small hand, Plagiocephaly, Hip dysplasia, Microphthalmia, Cleft palate	ORPHA:50
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers,...	OMIM:617527
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Talipes equinovarus, Duplication of phalanx of...	OMIM:236680
Williams-Beuren Region Duplication Syndrome	Brachycephaly	OMIM:609757
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Small hand, Plagiocephaly, Brachycephaly, Hip dysplasia, Short foot	ORPHA:500055
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto...	OMIM:612109
Fanconi Anemia, Complementation Group D2	Absent thumb, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb phalanx, Absen...	OMIM:227646
Den Hoed-De Boer-Voisin Syndrome	Small hand, Sandal gap, Oligohydramnios, 2-3 toe syndactyly, Brachycephaly, Short foot	OMIM:619229
Cornelia De Lange Syndrome 1	Finger aplasia, Micromelia, Elbow flexion contracture, Hypoplastic radial head, Limited elbow ext...	OMIM:122470
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broad hallux, Mesoaxial fo...	OMIM:612474
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Postaxial polydactyly	OMIM:219730
Adams-Oliver Syndrome 1	Toe syndactyly, Calvarial skull defect, Talipes equinovarus, Brachydactyly, Microphthalmia, Cleft...	OMIM:100300
Distal Deletion 3P	Clinodactyly of the 5th finger, Brachycephaly, Cleft palate, Postaxial hand polydactyly	ORPHA:1620
Tarp Syndrome	Clinodactyly, Finger syndactyly, Hypoplasia of proximal radius, Single transverse palmar crease, ...	ORPHA:2886
Faciocardiorenal Syndrome	Plagiocephaly, Cleft palate	ORPHA:1973
Alagille Syndrome	Short distal phalanx of finger, Brachycephaly, Hypoplasia of the ulna, Clinodactyly of the 5th fi...	ORPHA:52
Cerebrofaciothoracic Dysplasia	Polyhydramnios, Brachycephaly, Cleft palate	ORPHA:1394
Kleefstra Syndrome 1	Talipes equinovarus, Brachycephaly, Brachydactyly, Single transverse palmar crease	OMIM:610253
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Overlapping toe, Talipes equinovarus, Brachycephaly, Long fingers, Postaxial hand polydactyly, Po...	OMIM:213980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, Scaphocephaly, Microphthalmia, Craniosynostosis, Hip dysplasia, Frontal bossing, Tape...	OMIM:620005
Roberts-Sc Phocomelia Syndrome	Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Elbow flexion contracture...	OMIM:268300
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos...	OMIM:209900
9Q33.3Q34.11 Microdeletion Syndrome	Plagiocephaly, Patellar hypoplasia, Patellar aplasia, Single transverse palmar crease, Talipes eq...	ORPHA:495818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Cleft palate, Microphthalmia	OMIM:613150
Fraser Syndrome 2	Oligohydramnios, Cutaneous syndactyly, Microphthalmia	OMIM:617666
X-Linked Intellectual Disability, Wilson Type	Brachycephaly	ORPHA:85290
Fanconi Anemia, Complementation Group L	Absent thumb, Microphthalmia, Absent radius, Bilateral talipes equinovarus, Cleft palate	OMIM:614083
Skin Creases, Congenital Symmetric Circumferential, 2	2-3 toe syndactyly, Long fingers, Microphthalmia, Short palm, Clinodactyly of the 5th finger, Cle...	OMIM:616734
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Plagiocephaly, Clinodactyly, Broad 2nd toe, Brachycephaly, Contrac...	OMIM:280000
Beck-Fahrner Syndrome	Brachycephaly, Hip dysplasia	OMIM:618798
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Talipes equinovarus, Dislocated radial head, Syndactyly, Rad...	OMIM:180849
Culler-Jones Syndrome	Postaxial polydactyly, Cleft palate	OMIM:615849
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Abnormally large globe, Plagiocephaly, Optic nerve hypoplasia	OMIM:300749
Gorlin Syndrome	Palmar pits, Arachnodactyly, Brachycephaly, Orofacial cleft, Brachydactyly, Frontal bossing	ORPHA:377
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Absent radius, Microphthalmia, Complete duplication of thumb phalanx	OMIM:227645
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Small proximal tibi...	ORPHA:96334
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse palmar crease, B...	OMIM:148050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Brachycephaly, Hypoplasia of the ulna	OMIM:615398
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Brachycephaly, Brachydactyly, Clinodactyly of the 5th ...	ORPHA:1974
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Bowing ...	OMIM:210710
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 2nd finger, Talipes equinovarus, Brachycephaly, Ulnar deviation of the 3rd...	OMIM:616263
7Q31 Microdeletion Syndrome	Plagiocephaly, Clinodactyly of the 2nd finger, Prominent fingertip pads	ORPHA:251061
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Lig4 Syndrome	Clinodactyly of the 5th finger, Brachycephaly	OMIM:606593
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Posterior plagiocephaly, Genu valgum, Short femur	OMIM:617798
Alg9-Cdg	Rhizomelia, Flared metaphysis, Oligohydramnios, Talipes equinovarus, Brachycephaly, Narrow greate...	ORPHA:79328
Dubowitz Syndrome	Hypoplasia of the iris, Submucous cleft hard palate, Single transverse palmar crease, Microphthal...	OMIM:223370
Faciodigitogenital Syndrome, Autosomal Recessive	Down-sloping shoulders, Brachycephaly, Broad palm, Metatarsus adductus, Camptodactyly, Clinodacty...	OMIM:227330
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Carpal bone hypoplas...	OMIM:610442
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Plagiocephaly, Increased nuchal translucency, Pleural effusion, Hip dysplasia, Craniosynostosis, ...	ORPHA:453499
Traboulsi Syndrome	Broad hallux, Short finger, Arachnodactyly, Cubitus valgus, Microphthalmia	OMIM:601552
Papillorenal Syndrome	Edema, Microphthalmia	OMIM:120330
Turnpenny-Fry Syndrome	Small hand, Plagiocephaly, Clinodactyly, Overlapping toe, Prominent interphalangeal joints, Brach...	OMIM:618371
Cat Eye Syndrome	Absent radius, Cleft palate, Microphthalmia	OMIM:115470
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Brachycephaly, Flat occiput	OMIM:618797
Joubert Syndrome 1	Plagiocephaly, Postaxial foot polydactyly, Clinodactyly, Postaxial hand polydactyly	OMIM:213300
9P13 Microdeletion Syndrome	Clinodactyly of the 5th finger, Brachycephaly, Absent palmar crease	ORPHA:324313
Ring Chromosome 7 Syndrome	Short 5th finger, Slender finger, Small hand, Plagiocephaly, 3-4 toe syndactyly, Genu valgum, Med...	ORPHA:1449
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Polyhydramnios, Congenital hip dislocation, Plagiocephaly, Fractures of the long bones	ORPHA:496641
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Short thumb, Brachycephaly, Clinodactyly of the 5th finger, Frontal bossing, Tapered finger	OMIM:616728
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Kenny-Caffey Syndrome, Type 2	Thickened cortex of long bones, Abnormality of the medullary cavity of the long bones, Microphtha...	OMIM:127000
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Joint contracture of the hand, 2-3 toe syndactyly, Cubitus valgus, Brachyce...	OMIM:611962
Intellectual Developmental Disorder, Autosomal Dominant 29	Broad hallux, Sandal gap, Cutaneous finger syndactyly, Brachycephaly, Hip dysplasia, Frontal bossing	OMIM:616078
X-Linked Intellectual Disability, Snyder Type	Arachnodactyly, Brachycephaly, Slender toe, Long toe, Camptodactyly, Cerebral edema, Cleft palate	ORPHA:3063
Helsmoortel-Van Der Aa Syndrome	Posterior plagiocephaly, Small hand, Prominent fingertip pads, Sandal gap, Short 4th toe, Broad h...	OMIM:615873
Carey-Fineman-Ziter Syndrome 1	Plagiocephaly, Pectoralis hypoplasia, Talipes equinovarus, Cleft palate, Tapered finger	OMIM:254940
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fifth metatarsal, Slender finger, Posterior plagiocephaly, Plagiocephaly, Cone-shaped epiph...	OMIM:619841
Congenital Disorder Of Glycosylation, Type Iia	Brachycephaly, Proximal placement of thumb, Slender long bone, Coxa valga	OMIM:212066
Mosaic Variegated Aneuploidy Syndrome 1	Short sternum, Brachycephaly, Oligohydramnios, Cleft palate	OMIM:257300
Degcags Syndrome	Plagiocephaly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, ...	OMIM:619488
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Prominent occiput, Sirenomelia, Abnormal toe mo...	ORPHA:79500
Micro Syndrome	Microphthalmia	ORPHA:2510
Craniofacial Microsomia 1	Genu valgum, Anophthalmia, Partial duplication of thumb phalanx, Microphthalmia, Cleft palate, Tr...	OMIM:164210
Khan-Khan-Katsanis Syndrome	Postaxial polydactyly, Buphthalmos, Frontal bossing, Clinodactyly	OMIM:618460
Osteoporosis-Pseudoglioma Syndrome	Cataract, Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Iris atrophy, J...	OMIM:259770
Renpenning Syndrome 1	Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the 1st metac...	OMIM:309500
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Oligohydramnios, Polydactyly, Arachnodactyly, Hallux valgus, Clinodactyly of the ...	ORPHA:464306
X-Linked Intellectual Disability Due To Gria3 Mutations	Brachycephaly	ORPHA:364028
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Increased nuchal translucency, Postaxial polydactyly, Talipes equino...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Increased nuchal translucency, Postaxial polydactyly, Talipes equino...	ORPHA:352665
Arboleda-Tham Syndrome	Plagiocephaly, Sandal gap, Enlarged proximal interphalangeal joints, Upper eyelid edema, Genu val...	OMIM:616268
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Plagiocephaly, Craniosynostosis, Unilatera...	ORPHA:1521
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Developmental And Epileptic Encephalopathy 84	Plagiocephaly	OMIM:618792
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Elbow dislocation, Oligodactyly, In...	ORPHA:199
Histiocytoid Cardiomyopathy	Pulmonary edema, Congenital aphakia, Cleft palate, Microphthalmia	ORPHA:137675
Congenital Fibrosis Of Extraocular Muscles	Finger aplasia, Plagiocephaly, Optic nerve hypoplasia	ORPHA:45358
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Plagiocephaly, Submucous cleft hard palate	OMIM:619227
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Plagiocephaly, Brachycephaly, Long fingers, Bilateral talipes equinov...	OMIM:619512
Angelman Syndrome	Brachycephaly, Flat occiput	OMIM:105830
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly	OMIM:616579
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly	OMIM:619471
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
22Q11.2 Deletion Syndrome	Multiple suture craniosynostosis, Turricephaly, Arachnodactyly, Talipes equinovarus, Hand polydac...	ORPHA:567
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Short thumb, Clinodactyly, Radial deviation of finger, Overlapping to...	OMIM:613406
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Long palm, Narrow palm, Brachycephal...	OMIM:244450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Optic nerve hypoplasia, Cleft palate, Microphthalmia	OMIM:236670
Mullegama-Klein-Martinez Syndrome	Submucous cleft of soft and hard palate, Polydactyly, Clinodactyly of the 5th finger, Frontal bos...	OMIM:301022
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ascites, Brachycephaly, Plagiocephaly, Tapered finger	OMIM:301072
Kinsship Syndrome	Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Coxa valga, Dislocated radial h...	OMIM:619297
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hip dysplasia, Microphthalmia, Clinodactyly of the 5th finger, Frontal bossing, Syndactyly	OMIM:616975
Distal Deletion 12Q	Broad hallux, Elbow flexion contracture, Overlapping toe, Single transverse palmar crease, 2-3 to...	ORPHA:96149
Fontaine Progeroid Syndrome	Coronal craniosynostosis, Short distal phalanx of finger, Oligohydramnios, Absent distal phalange...	OMIM:612289
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Short foot, Plagiocephaly	OMIM:615471
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
Osteogenesis Imperfecta, Type Xx	Brachycephaly, Plagiocephaly	OMIM:618644
Alpha-Mannosidosis, Infantile Form	Cranial hyperostosis, Genu valgum, Cortical thickening of long bone diaphyses, Thickened calvaria...	ORPHA:309282
Adenylosuccinase Deficiency	Brachycephaly	OMIM:103050
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Cockayne Syndrome B	Square pelvis bone, Hypoplasia of the iris, Hypoplastic iliac wing, Hypoplastic pelvis, Thickened...	OMIM:133540
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Camptodactyly of finger, Abnormal occipital bone morphology, 4-5 finger...	ORPHA:468631
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Proximal radio-ulnar synostosis, Large hands	ORPHA:2062
Branchioskeletogenital Syndrome	Upper limb peromelia, Blepharochalasis, Submucous cleft hard palate, Thickened calvaria, Brachyce...	ORPHA:1299
De Barsy Syndrome	Congenital hip dislocation, Talipes equinovarus, Brachycephaly, Adducted thumb, Coxa vara	ORPHA:2962
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Sandal gap, Hypoplastic iliac wing, Single transverse pa...	OMIM:190685
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Plagiocephaly, Frontal bossing	OMIM:617193
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Clinodactyly, Trigonocephaly, Overlapping toe, Brachycephaly, Brachydactyly, Camptoda...	OMIM:309590
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dolichocephaly, Plagiocephaly, Frontal bossing, Increased femoral anteversion	OMIM:619005
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Clinodactyly, Broad hallux, Single transverse palmar crease, Microphthalmia, Polyhydramnios, Doli...	OMIM:620186
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Oculocerebrorenal Syndrome Of Lowe	Abnormal epiphysis morphology, Genu valgum, Abnormal metaphysis morphology, Joint swelling, Micro...	ORPHA:534
8Q24.3 Microdeletion Syndrome	Short 5th finger, Congenital hip dislocation, Optic nerve hypoplasia, Micromelia, Bilateral micro...	ORPHA:508488
Kleefstra Syndrome Due To 9Q34 Microdeletion	Brachycephaly, Flat occiput	ORPHA:96147
Specc1L-Related Hypertelorism Syndrome	Short toe, Finger syndactyly, Brachycephaly, Orofacial cleft, Brachydactyly, Clinodactyly of the ...	ORPHA:1519
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short 5th toe, 2-4 toe cutaneous syndactyly, Cleft soft palate, Oligohydramnios, Polydactyly, Hal...	ORPHA:268261
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Posterior plagiocephaly, Sandal gap, Scaphocephaly, Brachycephaly, Cutaneous sy...	OMIM:620330
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Orofacial cleft, Short femur, Short humerus, Polydactyly	ORPHA:17
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Brachycephaly, Contracture of the proximal interphalangeal joint of the 3rd finger, Cleft palate,...	OMIM:618223
Linear Skin Defects With Multiple Congenital Anomalies 1	Single transverse palmar crease, Cleft palate, Microphthalmia	OMIM:309801
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
X-Linked Intellectual Disability, Armfield Type	Small hand, Limited elbow extension, Brachycephaly, Short foot, Cleft palate, Abnormality of the ...	ORPHA:85276
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565
Ayme-Gripp Syndrome	Craniofacial asymmetry, Radioulnar synostosis, Brachycephaly, Brachydactyly, Camptodactyly, Taper...	OMIM:601088
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly	OMIM:619244
Neuroocular Syndrome 1	Prominent fingertip pads, Tibial torsion, Submucous cleft hard palate, Hypoplasia of the fovea, T...	OMIM:619539
Down Syndrome	Sandal gap, Bilateral single transverse palmar creases, Brachycephaly, Brachydactyly, Clinodactyl...	ORPHA:870
Kleefstra Syndrome	Talipes equinovarus, Brachycephaly	ORPHA:261494
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Short femoral neck, Decreased fibular diameter, Dysplasia of the femoral head, Genu v...	OMIM:619127
Okamoto Syndrome	Abnormally large globe, Oligohydramnios, Polydactyly, Hip dysplasia, Cleft palate	ORPHA:2729
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short long bone, Po...	OMIM:617088
7Q11.23 Microduplication Syndrome	Single transverse palmar crease, Cubitus valgus, Brachycephaly, Long fingers, Dolichocephaly, Cra...	ORPHA:96121
Aicardi Syndrome	Proximal placement of thumb, Cleft palate, Microphthalmia	OMIM:304050
Fucosidosis	Brachycephaly	ORPHA:349
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Townes-Brocks Syndrome	Toe clinodactyly, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Preaxial hand polydacty...	ORPHA:857
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Coffin-Siris Syndrome 1	Plagiocephaly, Prominent fingertip pads, Sandal gap, Short distal phalanx of the 5th toe, Single ...	OMIM:135900
Simpson-Golabi-Behmel Syndrome, Type 1	Short distal phalanx of finger, Broad thumb, Short finger, Trigonocephaly, Short greater sciatic ...	OMIM:312870
Chromosome 14Q11-Q22 Deletion Syndrome	Hip subluxation, Plagiocephaly, Mesomelia	OMIM:613457
Osteogenesis Imperfecta	Rhizomelia, Calcification of the interosseus membrane of the forearm, Micromelia, Slender long bo...	ORPHA:666
Holoprosencephaly 2	Proboscis, Median cleft palate, Submucous cleft hard palate, Bilateral cleft palate, Bilateral cl...	OMIM:157170
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Polyhydramnios, Plagiocephaly	OMIM:618548
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Cubitus valgus, Brachycephaly, Brachydactyly, Polyhydramnios, Sho...	OMIM:617157
Congenital Myopathy 13	Bilateral talipes equinovarus, Brachycephaly, Cleft palate	OMIM:255995
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Craniosynostosis, Brachycephaly, Slender long bone, Upper limb undergrowth	ORPHA:369837
Tetraamelia Syndrome 1	Hypoplastic pelvis, Cleft palate, Microphthalmia	OMIM:273395
Faundes-Banka Syndrome	Fetal ascites, Plagiocephaly, Frontal bossing, Cleft palate, Flexion contracture of toe	OMIM:619376
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Slender finger, Plagiocephaly, Tibial torsion, Talipes equinovarus, Long toe, Long fingers	OMIM:613355
Joubert Syndrome 39	Postaxial polydactyly, Joint contracture of the 5th finger	OMIM:619562
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Optic disc hypoplasia, Camptodactyly of finger, Submucous cleft soft palate, Sh...	ORPHA:3455
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Protrusio acetabuli, Absent distal phalanges, Arachnodactyly, Tali...	OMIM:610168
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Slender finger, Small hand, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, B...	ORPHA:480880
Trichothiodystrophy	Craniosynostosis, Clubbing, Bilateral microphthalmos	ORPHA:33364
Bosma Arhinia Microphthalmia Syndrome	Cleft palate, Microphthalmia	OMIM:603457
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Carpal synostosis, Oligohydramnios, Femoral bowing, Humeroradial s...	OMIM:201750
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly	ORPHA:137605
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Thin long bone diaphyses, Bilateral microphthalmos, S...	ORPHA:93325
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Xerostomia, Short thumb, Broad hallux, Preaxial polydactyly, Radi...	OMIM:149730
Combined Pituitary Hormone Deficiencies, Genetic Forms	Median cleft palate, Abnormal digit morphology, Polydactyly, Septo-optic dysplasia, Optic nerve h...	ORPHA:95494
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Prominent fingertip pads, Cleft soft palate, Brachycephaly, Long fingers, Cleft palate, Tapered f...	OMIM:619950
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Short toe, Micromelia, Brachycephaly, Brachydactyly, Polyhydramnios, ...	ORPHA:709
Alstrom Syndrome	Hyperostosis frontalis interna, Polydactyly	OMIM:203800
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Wrist swelling, Camptodactyly of finger, Genu val...	OMIM:309000
White-Sutton Syndrome	Brachycephaly	ORPHA:468678
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o...	ORPHA:353277
Congenital Disorder Of Deglycosylation 1	Small hand, Single transverse palmar crease, Intrinsic hand muscle atrophy, Brachycephaly, Short ...	OMIM:615273
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Slender finger, Fetal ascites, Internally rotated shoulders, Elbow flexion contracture, Hyperexte...	OMIM:619503
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Scapular winging	ORPHA:500
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Phthisis bulbi, Brachycephal...	OMIM:211380
Rabson-Mendenhall Syndrome	Polydactyly	ORPHA:769
6Q Terminal Deletion Syndrome	Dolichocephaly, Hallux valgus, Plagiocephaly, Clinodactyly	ORPHA:75857
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Arachnodactyly, Talipes equinovarus, Brachycephaly, Adducted thumb, Cleft palate	OMIM:601776
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Clinodactyly, Slender long bone, Short humerus, Talipes equinovarus, Brachyceph...	OMIM:264090
Loeys-Dietz Syndrome 1	Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Postaxial hand polydactyly, Camptodac...	OMIM:609192
Cockayne Syndrome	Thickened calvaria, Abnormal epiphysis morphology, Microphthalmia	ORPHA:191
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Dolichocephaly, Plagiocephaly, Frontal bossing, Tapered finger	OMIM:619480
Gapo Syndrome	Plagiocephaly, Frontal bossing	OMIM:230740
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Camptodactyly of finger, Submucous cleft hard palate, Brachycephaly, Orofacial ...	OMIM:607872
Pmm2-Cdg	Hypoalbuminemia, Cataract, Reduced thyroxin-binding globulin	ORPHA:79318
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Plagiocephaly, Hypoplasia of proximal radius, Fibular hypoplasia, Brachydactyly, Hip ...	ORPHA:444077
Osteopetrosis With Renal Tubular Acidosis	Thickened calvaria, Brachycephaly, Oligohydramnios, Plagiocephaly	ORPHA:2785
1P36 Deletion Syndrome	Camptodactyly of finger, Clinodactyly of the 5th finger, Brachycephaly, Brachydactyly, Hip dyspla...	ORPHA:1606
Orofaciodigital Syndrome Xiv	Broad hallux, Preaxial polydactyly, Trigonocephaly, Postaxial hand polydactyly, Cleft palate	OMIM:615948
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Small hand, Plagiocephaly, Finger clinodactyly, Sagittal craniosynostosis, Optic nerve hypoplasia	OMIM:620455
Trichorhinophalangeal Syndrome, Type Ii	2-4 toe syndactyly, Plagiocephaly, Skull asymmetry, Cone-shaped epiphyses of the phalanges of the...	OMIM:150230
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Plagiocephaly, Genu valgum, Single transverse palmar crease, Talipes equinovarus, Dolichocephaly,...	OMIM:619475
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Faciocardiomelic Syndrome	Hypoplastic pelvis, Slender long bone, Polydactyly	OMIM:612731
Treacher Collins Syndrome 1	Cleft soft palate, Cleft palate, Bilateral microphthalmos	OMIM:154500
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Submucous cleft of soft and hard palate, Broad hallux, Long hallux, Genu valgum, Arachnodactyly, ...	ORPHA:261537
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pleural effusion, Nonimmune hydrops fetalis, Brachycephaly, Polyhydramnios, Cleft palate	OMIM:265380
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly	OMIM:608980
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Plagiocephaly, Synostosis involving the 1st metacarpal, Thickened calvaria, Hallux valgus, Clinod...	ORPHA:466791
Viss Syndrome	Cleft soft palate, Genu valgum, Submucous cleft soft palate, Contracture of the proximal interpha...	OMIM:619472
Mowat-Wilson Syndrome	Submucous cleft of soft and hard palate, Broad hallux, Genu valgum, Anterior plagiocephaly, Long ...	ORPHA:2152
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Bicoronal synostosis, Anterior plagiocephaly	OMIM:619718
Vater/Vacterl Association	Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal thumb, Hypoplasia of the ...	OMIM:192350
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Submucous cleft of soft and hard palate, Broad hallux, Long hallux, Genu valgum, Arachnodactyly, ...	ORPHA:261552
Neurocardiofaciodigital Syndrome	Polydactyly, Syndactyly	OMIM:619869
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Common Variable Immunodeficiency	Brachycephaly	ORPHA:1572
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Finger syndactyly, Postaxial polydactyly, Talipes equin...	ORPHA:110
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Brachycephaly, Hallux valgus	ORPHA:2072
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Narrow iliac wing, Hip contracture	ORPHA:3042
Aicardi-Goutières Syndrome	Plagiocephaly	ORPHA:51
Mowat-Wilson Syndrome	Cleft palate, Submucous cleft hard palate, Microphthalmia	OMIM:235730
Norrie Disease	Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Primrose Syndrome	Short distal phalanx of finger, Genu valgum, Hip contracture, Brachycephaly, Narrow iliac wing, H...	OMIM:259050
Aspartylglucosaminuria	Thickened calvaria, Brachycephaly	OMIM:208400
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Microcephaly 8, Primary, Autosomal Recessive		OMIM:614673

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cep135

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cep135.

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

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cep135 MGI:2681869

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E12.5

X-ray

X-ray

X-ray

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

Eye Morphology

Auditory Brain Stem Response

Human diseases caused by Cep135 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data