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Gene: Ptp4a1 MGI:1277096

Gene Summary

Name:

protein tyrosine phosphatase 4a1

Synonyms:

Prl-1

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
persistence of hyaloid vascular system	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult	9.39×10^-08
abnormal skin morphology	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult	0.00
abnormal uterus morphology	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult	0.00
abnormal heart morphology	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult	0.00
abnormal retina blood vessel morphology	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult	1.23×10^-07
enlarged urinary bladder	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult	0.00
abnormal optic disk morphology	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult	1.23×10^-07
increased circulating alkaline phosphatase level	Ptp4a1^em2(IMPC)Tcp	HOM	Early adult	3.34×10^-06
small spleen	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult	0.00
microphthalmia	Ptp4a1^em2(IMPC)Tcp	HOM	Early adult	0.00
cataract	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult	7.30×10^-05
abnormal bone structure	Ptp4a1^em2(IMPC)Tcp	HOM	Early adult	4.20×10^-05
small kidney	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult	0.00
abnormal sternum morphology	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult	0.00
short tibia	Ptp4a1^em2(IMPC)Tcp	HOM	Early adult	1.31×10^-07
abnormal retina vasculature morphology	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult	9.53×10^-07
decreased bone mineral content	Ptp4a1^em2(IMPC)Tcp	HOM	Early adult	6.31×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Histopathology

Images

13 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Slit Lamp

27 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Ptp4a1 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 Ptp4a1 (0 diseases)
Human diseases predicted to be associated with Ptp4a1 (908 diseases)

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

The table below shows human diseases predicted to be associated to Ptp4a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a...	ORPHA:93323
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Short thumb, Cataract, Chorioretinal coloboma, Cryptorchidism	OMIM:274205
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Eiken Syndrome	Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph...	ORPHA:79106
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Hammertoe, Optic atrophy	OMIM:618511
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Bardet-Biedl Syndrome 18	Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystro...	OMIM:615995
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Ceroid Lipofuscinosis, Neuronal, 9	Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy	OMIM:609055
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregul...	OMIM:602271
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi...	OMIM:615297
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ...	OMIM:204200
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Short tibia, Humeroradial synostosis, A...	OMIM:251230
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Microphthalmia, Rocker bottom foot, Micrognathia	OMIM:616570
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ...	ORPHA:1473
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria, Cataract	OMIM:619813
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Congenital hepatic fibrosis, Ch...	ORPHA:3156
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Morm Syndrome	Micropenis, Retinal atrophy, Retinal dystrophy, Cataract	ORPHA:75858
Slc35A2-Cdg	Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Craniosynostosis,...	ORPHA:356961
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Camos Syndrome	Nephrotic syndrome, Renal insufficiency, Optic atrophy	ORPHA:83472
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, H...	OMIM:204000
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short metacarpal, Cataract, Short thumb, Cryptorchidism, Chorioretinal coloboma	ORPHA:2489
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchid...	OMIM:613730
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Caffey Disease	Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal bon...	OMIM:114000
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c...	OMIM:620076
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract, Vaginal hernia, Hypertrophic cardiomyopathy, Broad thumb	ORPHA:3173
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb	ORPHA:3434
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy	OMIM:616171
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly, Optic atrophy	OMIM:611721
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Axial Spondylometaphyseal Dysplasia	Proximal femoral metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Proximal femo...	ORPHA:168549
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx...	OMIM:601559
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Abnormal epiphys...	ORPHA:93267
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral density, Tibia...	OMIM:166740
Nanophthalmos	Microphthalmia	ORPHA:35612
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Optic atrophy, Diaphyseal thickening	ORPHA:1513
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C...	OMIM:616108
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment, Hypoplasia of the ulna, Cataract, Broad hallux, Short metatarsal, Flattened e...	ORPHA:1856
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Left ventricular hypertrophy	OMIM:618632
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal...	ORPHA:791
Congenital Varicella Syndrome	Microphthalmia, Micromelia	ORPHA:291
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Bardet-Biedl Syndrome 9	Syndactyly, Bone spicule pigmentation of the retina, Cataract, Brachydactyly, Renal insufficiency...	OMIM:615986
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Split hand, Hand monodactyly, Split foot, Retinopathy	OMIM:183800
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly	OMIM:610023
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Micropenis, Cataract, Retinal dystrophy	OMIM:610156
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis,...	OMIM:249270
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Short tibia, Squared iliac bones, Preaxial ...	OMIM:616300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Nanophthalmos 4	Microphthalmia	OMIM:615972
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Brachydactyly, Optic atrophy, Short distal phalanx of finger	ORPHA:2787
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Crumpled long bones, Metaphyseal widening, Osteoporosis, Abnormal femoral neck/head m...	ORPHA:2788
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Cataract, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Sho...	OMIM:132450
Temtamy Syndrome	Pes planus, Brachydactyly, Micrognathia, Short toe, Clinodactyly of the 5th finger, Microphthalmi...	ORPHA:1777
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Microphthalmia With Limb Anomalies	Anophthalmia, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, P...	OMIM:206920
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Hypocal...	OMIM:607143
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Intellectual Developmental Disorder, X-Linked 101	Clinodactyly, Optic atrophy	OMIM:300928
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Ventricular septal ...	ORPHA:290
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Abnormal retinal morphology, Atrial septal defect, Hypoplastic spleen, Patent...	ORPHA:89844
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Micrognathia, Coxa valga, Flat acetabular roof, Flattened epiphys...	ORPHA:163649
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Sclerosteosis	Finger syndactyly, Facial palsy, Optic atrophy, 2-3 finger syndactyly, Curved distal phalanges of...	ORPHA:3152
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Thickened ribs, Optic atrophy, Diaphyseal sclerosis, Facial diplegia	OMIM:122860
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, External genital hypoplasia, Cryptorchidism, Retinal coloboma, Hypogonadism, Rod-cone d...	ORPHA:363741
Autosomal Recessive Stickler Syndrome	Retinal detachment, Epiphyseal dysplasia, Cataract, Genu valgum, Vitreoretinopathy, Astigmatism, ...	ORPHA:250984
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia, Craniosynostosis	OMIM:218670
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy...	OMIM:112350
Achondrogenesis Type 2	Retinal detachment, Cataract, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification,...	ORPHA:93296
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Cataract, Retinal...	ORPHA:166011
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Trisomy 13	Cataract, Ventricular septal defect, Abnormal retinal vascular morphology, Cryptorchidism, Postax...	ORPHA:3378
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Pierpont Syndrome	Short toe, Short foot, Deep plantar creases, Broad foot, Short palm, Prominent fingertip pads, Mi...	OMIM:602342
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Poorly ossified vertebrae, Shortening of all ...	OMIM:619135
Facial Clefting, Oblique, 1	Microphthalmia, Talipes calcaneovalgus	OMIM:600251
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Optic Atrophy 6	Optic atrophy	OMIM:258500
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Calcium oxalate nephrolithiasis, Astigmatism, Optic atrophy, Genu valgum	OMIM:248000
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Hypoplastic spleen, Thin ribs, Slender long bone, Aniridia, Micropen...	OMIM:602361
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:600081
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Craniosynostosis	ORPHA:1528
Hartsfield Syndrome	Microphthalmia, Aplasia/Hypoplasia of the radius, Split hand, Craniosynostosis	ORPHA:2117
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Stickler Syndrome Type 1	Retinal detachment, Cataract, Abnormal vitreous humor morphology, Mitral valve prolapse, Abnormal...	ORPHA:90653
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co...	ORPHA:2334
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro...	OMIM:222300
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Pes cavus	OMIM:278780
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia, Iris coloboma, Abnormal heart morphology	ORPHA:2185
Infantile Refsum Disease	Hepatomegaly, Cataract, Facial palsy, Optic atrophy, Cardiomyopathy, Abnormal epiphysis morpholog...	ORPHA:772
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Cataract, Renal insufficiency, Cryptorchidism, Congenital...	ORPHA:2377
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Osteoporosis, Camptodactyly of finger, Micrognathia	ORPHA:48431
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ...	ORPHA:1553
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism, Genu ...	ORPHA:1381
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome, Retinal arte...	OMIM:249660
Warburg Micro Syndrome 1	Overlapping toe, Microphthalmia, Osteoporosis, Micrognathia	OMIM:600118
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pubic bone, F...	OMIM:617925
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, F...	OMIM:609033
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Microcornea, Atri...	OMIM:201000
Pierpont Syndrome	Pes planus, Short toe, Abnormality of the plantar skin of foot, Short finger, Prominent fingertip...	ORPHA:487825
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	OMIM:601794
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, ...	ORPHA:496790
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Hepatomegaly, Abnormal thumb morphology, Optic atrophy, Small ha...	ORPHA:1597
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Moebius Syndrome	Syndactyly, Pes planus, Brachydactyly, Micrognathia, Clinodactyly, Split hand, Abnormal pelvic gi...	OMIM:157900
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati...	ORPHA:171844
Cofs Syndrome	Microphthalmia, Camptodactyly of finger, Talipes, Micrognathia	ORPHA:1466
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Metatarsus adductus, C...	OMIM:214110
Neuraminidase Deficiency	Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro...	OMIM:256550
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Bowing of the legs, Delayed epiphysea...	OMIM:300554
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Camptodactyly of finger, Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia	ORPHA:272
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Sarcosinemia	Hypersarcosinuria, Hypertrophic cardiomyopathy, Optic atrophy, Pulmonic stenosis	ORPHA:3129
Marinesco-Sjögren Syndrome	Short palm, Cataract, External genital hypoplasia, Coxa valga, Avascular necrosis of the capital ...	ORPHA:559
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Lissencephaly 8	Talipes equinovarus, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:617255
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Attenuation of retinal blood vessels, Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Sh...	OMIM:614376
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly	ORPHA:141333
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach...	OMIM:221900
Mucolipidosis Iv	Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity	OMIM:252650
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Missing ribs, Cryptorchidism, Opti...	ORPHA:3301
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy	OMIM:612989
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Micrognathia	OMIM:615524
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Harel-Yoon Syndrome	Peripheral axonal neuropathy, Corneal opacity, Optic atrophy, Developmental cataract, Hip dysplas...	OMIM:617183
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Hypertrophic cardiomyopathy, Optic atrophy	OMIM:618236
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Calf muscle hypertrophy, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:613155
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Macular atrophy, Situs inversus totalis, Posterior subcapsular cataract, Rod-c...	OMIM:615434
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Optic atrophy, Cardiomyopathy,...	ORPHA:79312
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervou...	OMIM:598500
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Cutaneous finger syndactyly, Partial duplication of the proximal ...	ORPHA:363417
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Hypospadias, Cryptorchidism, Microvesicular hepatic steatosis, Dila...	OMIM:610198
Isolated Atp Synthase Deficiency	Hepatomegaly, Cataract, Dilated cardiomyopathy, Optic atrophy, Renal hypoplasia, 3-Methylglutacon...	ORPHA:254913
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Leber Congenital Amaurosis 14	Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Diencephalic Syndrome	Long penis, Optic atrophy	ORPHA:1672
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Absent thumb, Short thumb, Cryptorc...	OMIM:617516
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Micrognathia, Coxa valga, Osteoporosis, Knee flexion contracture, Second meta...	OMIM:214150
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia	OMIM:615085
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy	ORPHA:3151
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Vesico...	ORPHA:959
Joubert Syndrome 22	Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly	OMIM:615665
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Broad hallux phalanx, Cataract, Corneal opacity, Hepatomegal...	ORPHA:585
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Microphthalmia, Syndromic 9	Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Renal hypoplasia, Horseshoe k...	OMIM:601186
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morpholo...	ORPHA:7
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anem...	OMIM:611490
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Optic disc coloboma, Hypoplas...	OMIM:169550
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Sho...	OMIM:241410
Refsum Disease, Classic	Short fourth metatarsal, Cataract, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Rod-c...	OMIM:266500
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Developmental ca...	ORPHA:93400
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Cln3 Disease	Cataract, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopathy, ...	ORPHA:228346
Optic Atrophy 8	Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Mi...	OMIM:616648
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Optic atrophy, Abnormal heart morphology,...	ORPHA:494344
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge...	OMIM:274000
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Bardet-Biedl Syndrome 20	Papilledema, Atrial septal defect, Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, ...	OMIM:619471
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Retinal dystrophy, Sclerocornea, Proximal placement of thumb, Crypto...	ORPHA:139471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:615181
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Retinal dystrophy, Megaloblastic anemia, Optic atrophy, Atrial septal ...	ORPHA:49827
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloi...	OMIM:609049
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proximal renal tubular aci...	OMIM:146255
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc...	OMIM:120330
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Micrognathia, Knee flexion contracture, Camptodactyly, Microphthalmia	OMIM:619694
Warburg Micro Syndrome 2	Cataract, Overlapping toe, Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, ...	OMIM:614225
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Cataract, Abnormal chorioretinal morphology, Corneal ...	ORPHA:912
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Hepatic fibrosis, M...	OMIM:209900
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop...	OMIM:619260
Stt3B-Cdg	Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia	ORPHA:370924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Acromelic Frontonasal Dysostosis	Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hyp...	OMIM:603671
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Ami...	ORPHA:414
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Abnormal heart morphology, Hepatosplenome...	ORPHA:93399
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of liv...	ORPHA:247691
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Refsum Disease	Abnormality of retinal pigmentation, Short metacarpal, Cataract, Renal insufficiency, Splenomegal...	ORPHA:773
Congenital Disorder Of Glycosylation, Type Ix	Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia	OMIM:615597
Chromosome Xp11.3 Deletion Syndrome	Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ...	OMIM:300578
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia	ORPHA:195
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro...	OMIM:268315
Distal Deletion 13Q	Aplasia/Hypoplasia of the thumb, Optic atrophy, Abnormal cardiac septum morphology, Abnormal meta...	ORPHA:1590
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Abnormality of the liver, Cataract, Optic atrophy	ORPHA:44
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality...	ORPHA:3035
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Flexion contractur...	ORPHA:2712
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Abnormal peripheral myelination, Testicul...	ORPHA:168563
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphyses, Short tibia...	ORPHA:96334
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Hypoplastic frontal sinuses, Radial deviation of finger, Camptodactyl...	OMIM:136760
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat...	OMIM:612674
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Micrognathia, Osteopetrosis, Clinodactyly of the 5th finger, Micr...	OMIM:617306
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Micrognathia, Small hand, Absent distal phalanges, Microphthalmia	OMIM:619339
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Micro...	ORPHA:2547
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Cardiomyop...	ORPHA:27
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Microphthalmia, Anophthalmia	OMIM:164180
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Kapur-Toriello Syndrome	Cataract, Ventricular septal defect, Camptodactyly of finger, Short thumb, Cryptorchidism, Hypopl...	OMIM:244300
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Ring Chromosome 10 Syndrome	Sandal gap, Tapered finger, Micrognathia, Hypocalcemia, Microphthalmia	ORPHA:1438
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Microcytic anemia, Optic atrophy, Coloboma, Rod-cone dystrophy	ORPHA:324737
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Intermediate Uveitis	Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ...	ORPHA:279914
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co...	ORPHA:899
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Microphthalmia, Syndromic 5	Cataract, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Coloboma, Micro...	OMIM:610125
X-Linked Intellectual Disability, Najm Type	Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe...	OMIM:618280
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Polydactyly, Syndactyly	OMIM:602501
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Hypogonadism, ...	ORPHA:1173
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Polydactyly, Talipes equinovarus	OMIM:613885
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Cardiomyopathy, Abnormal retinal nerve fiber ...	ORPHA:1215
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Warburg Micro Syndrome 3	Cataract, Small scrotum, Hypoplastic labia minora, Optic atrophy, Developmental cataract, Microco...	OMIM:614222
Microphthalmia, Syndromic 8	Microphthalmia, Split foot	OMIM:601349
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Optic atrophy, Renal tubular dysfunction, Ne...	ORPHA:289916
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly	OMIM:611561
Donnai-Barrow Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Ventricular septal defect, Proteinuria, Non-acid...	OMIM:222448
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Bowing of the legs, Delayed epiphysea...	OMIM:300009
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy	ORPHA:3456
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Tibial Hemimelia	Absent tibia	OMIM:275220
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Vitamin K Antagonist Embryofetopathy	Cataract, Optic atrophy, Epiphyseal stippling, Short distal phalanx of finger, Brachydactyly	ORPHA:1914
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Coach Syndrome 1	Optic disc pallor, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Po...	OMIM:216360
Spondylo-Ocular Syndrome	Pes planus, Microphthalmia, Aplasia/Hypoplasia of the lens, Osteoporosis	ORPHA:85194
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Hypoplasia of the uterus, Azo...	OMIM:601076
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l...	ORPHA:2510
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased testicular size, Broad hallux, Overlapping toe, Hypogonadotropic hypogonadism, Microcyt...	ORPHA:293967
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure...	OMIM:607323
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of...	ORPHA:2839
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cataract, Pericardial effusion, Optic atrophy, Opto-chiasmatic atrophy, Cardiomyopathy, Elevated ...	OMIM:620089
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Osteolysis in...	ORPHA:371428
Martsolf Syndrome 1	Pes planus, Short metacarpal, Micrognathia, Metatarsus adductus, Slender ulna, Short toe, Osteopa...	OMIM:212720
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Coloboma, Abnormal optic disc morphology, Short palm, Clinodactyly of the ...	ORPHA:508498
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Satoyoshi Syndrome	Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ...	ORPHA:3130
Microphthalmia, Lenz Type	Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, Hydroureter, Cryptorchidism, O...	ORPHA:568
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Ureteral atresia, Cardiomyopathy, R...	ORPHA:1493
Woods Syndrome	3-4 finger cutaneous syndactyly, Ventricular septal defect, Optic atrophy	OMIM:615236
Mucopolysaccharidosis-Plus Syndrome	Metaphyseal widening, Leukopenia, Chorioretinal hypopigmentation, Macrovesicular hepatic steatosi...	OMIM:617303
Meckel Syndrome	Ureteral duplication, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Accessory spleen, Mu...	ORPHA:564
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Pre...	OMIM:243605
Pagod Syndrome	Multicystic kidney dysplasia, Situs inversus totalis, Abnormality of the spleen, Abnormal rib mor...	ORPHA:991
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Micrognathia, Bilateral microphthalmos, Flared metap...	OMIM:610758
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh...	ORPHA:2714
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hypoalbuminemia	OMIM:618805
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Temtamy Syndrome	Pes planus, Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Br...	OMIM:218340
Kniest Dysplasia	Retinal detachment, Enlarged epiphyses, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of ...	ORPHA:485
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Postaxial polydactyly, Unilateral renal ag...	OMIM:614576
Mirage Syndrome	Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadism, Radial club hand, Cryptorchidism...	OMIM:617053
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Hypospadias, Ovotestis, Hypo...	OMIM:309801
17Q12 Microduplication Syndrome	Microphthalmia, Toe syndactyly, Finger syndactyly	ORPHA:261272
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Micr...	OMIM:127000
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Sandal gap, Proteinuria, Abno...	ORPHA:2715
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria	ORPHA:309288
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Micrognathia	OMIM:610756
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Facial palsy, Optic atrophy, Genu valgum, Abnormal epiphysis morph...	ORPHA:53
Fanconi Anemia, Complementation Group R	Microphthalmia, Radial dysplasia, Absent thumb	OMIM:617244
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly	OMIM:619981
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Dislocation of the femoral head, Hypoplastic ischia, Micrognath...	OMIM:260660
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Epip...	OMIM:302960
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap	OMIM:300887
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Abnormal circulating lipid concentration, Synostosis of carpal bones, Micrognathia	ORPHA:3191
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:613153
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-cone dystrophy	OMIM:616562
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Lower limb asymmetry, Neonatal epiphyseal stippling, Hip dislocati...	ORPHA:35173
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys, Abnormal heart ...	ORPHA:2237
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Micrognathia, Congeni...	ORPHA:435638
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at...	OMIM:259710
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Joint contracture of the 4th finger,...	OMIM:618914
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Vaginal at...	OMIM:617914
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Polycy...	ORPHA:2969
Cinca Syndrome	Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega...	ORPHA:699
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Fluctuating hepatomegaly, Fluctuating...	OMIM:610377
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia, Micrognathia	OMIM:606744
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Optic atrophy, Short metatarsa...	OMIM:605282
Aica-Ribosuria Due To Atic Deficiency	Fused labia minora, Secundum atrial septal defect, Optic atrophy, Elevated urinary 5-amino-4-imid...	OMIM:608688
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Bru...	OMIM:614866
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Mucopolysaccharidosis Type 1	Corneal opacity, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Split...	ORPHA:579
Juvenile Paget Disease	Abnormality of retinal pigmentation, Bowing of the long bones, Optic atrophy, Coarse metaphyseal ...	ORPHA:2801
Mitochondrial Complex I Deficiency, Nuclear Type 27	Neurogenic bladder, Optic atrophy	OMIM:618248
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Femur fracture, Facial palsy, Thrombocytopenia, Splenomegaly, Optic a...	OMIM:259700
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Knobloch Syndrome	Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Abnormal vitreous humor morphology, M...	ORPHA:1571
Adams-Oliver Syndrome 2	Microphthalmia, Absent distal phalanges, Short middle phalanx of finger, Micrognathia	OMIM:614219
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand...	ORPHA:3103
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Microcornea, Atrial septal defect, Contracture of the proximal inte...	OMIM:300166
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Ventricular septal defect, Optic nerve hypoplasia, Sclerocornea, M...	OMIM:206900
Curry-Jones Syndrome	Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydactyly, 2-3 finger syndac...	OMIM:601707
Jacobsen Syndrome	Ventricular septal defect, Hypospadias, Missing ribs, Cryptorchidism, Optic atrophy, Microcornea,...	OMIM:147791
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Thrombocytopenia, Supravalvar pulmonary stenosis, Develo...	OMIM:620185
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna...	OMIM:619879
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Brachydactyly, Broad thumb, Micrognathia	OMIM:614526
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Hyperextensibility of the knee, Micrognathia, Osteoporosis, Palmoplantar hyperkera...	OMIM:601812
Meckel Syndrome, Type 2	Microphthalmia, Bowing of the long bones, Polydactyly, Postaxial hand polydactyly	OMIM:603194
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Ectopic kidney, Renal cyst, Microcornea, Clinodactyly of the 5th fin...	OMIM:122470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Elevated circulating creatine kinase concentration, Abnormally large globe	OMIM:615249
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ...	OMIM:616959
Roifman-Chitayat Syndrome	Short metacarpal, Ectopic kidney, Optic atrophy, Short metatarsal, Cone-shaped epiphysis	OMIM:613328
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Microphthalmia, Broad hallux	OMIM:614105
Chops Syndrome	Cataract, Ventricular septal defect, Cryptorchidism, Splenomegaly, Optic atrophy, Anomalous pulmo...	OMIM:616368
Sandestig-Stefanova Syndrome	Microphthalmia, Clinodactyly, Rocker bottom foot, Camptodactyly	OMIM:618804
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A...	OMIM:118450
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Short foot, Broad proximal phalanges of the hand, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Camurati-Engelmann Disease	Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,...	ORPHA:1328
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Chorioretinal colo...	ORPHA:857
Mosaic Trisomy 1	Microretrognathia, Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Campt...	ORPHA:1692
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor...	OMIM:609053
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Hydrolethalus	Anophthalmia, Micromelia, Micrognathia, Postaxial hand polydactyly, Microphthalmia	ORPHA:2189
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Broad hallux, Sandal gap, Optic atrophy, Ectopia pupillae, Astigmatism, Clinodactyly, 3...	OMIM:618727
Amed Syndrome, Digenic	Acute myeloid leukemia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, Bone marrow hypoc...	OMIM:619151
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,...	ORPHA:974
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Pericarditis, Renal insufficiency, Proteinuria, Hepatomegaly, Portal hypertensi...	OMIM:619487
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Lower limb asymmetry, Micrognathia, 2-3 toe syndactyly, Postaxial foot pol...	ORPHA:404440
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Aniridia, Microphthalmia, Camptodactyly of toe	ORPHA:251038
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Optic atrophy, Renal cyst, Epiphyseal stippling, Hepatic fibrosis, C...	OMIM:601539
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentar...	ORPHA:436271
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Splenomegaly, Optic atrophy, Renal hy...	OMIM:617913
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Chorioretinal coloboma, Triphalangeal thumb, Atrial septal defec...	OMIM:107480
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated uri...	ORPHA:892
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricu...	OMIM:619167
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Female hypogonadism, Chronic active hepatitis, Asplenia, Keratoconjunctivitis, Nephroca...	OMIM:240300
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping fingers, Overlapping toe, Hip dysplasia, Prominent fingertip pads, Microphthalmia	OMIM:618494
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po...	ORPHA:280921
Bresek Syndrome	Microphthalmia, Postaxial hand polydactyly, Optic nerve hypoplasia	ORPHA:85284
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Hallux valgus, Thumb contracture, Bifid scrotum, Small scrotum, Retinal dystrophy, Tapered finger...	ORPHA:324540
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Cockayne Syndrome Type 3	Microcornea, Lentiglobus, Retinal degeneration, Hepatomegaly, Retinal atrophy, Renal hypoplasia, ...	ORPHA:90324
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ...	ORPHA:140
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Urethral atresia, Aplasia of the ...	OMIM:271520
Meckel Syndrome 12	Rocker bottom foot, Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of t...	OMIM:616258
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Oculodentodigital Dysplasia, Autosomal Recessive	Broad long bones, Fifth finger distal phalanx clinodactyly, Micrognathia, 4-5 finger syndactyly, ...	OMIM:257850
Dysosteosclerosis	Ventricular septal defect, Optic atrophy, Abnormal cranial nerve morphology, Abnormal metaphysis ...	ORPHA:1782
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Cataract, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Retinal...	OMIM:253800
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy	OMIM:535000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Cryptorch...	OMIM:236670
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Monosomy 18P	Microphthalmia, Brachydactyly, Micrognathia	ORPHA:1598
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Anemia	OMIM:185070
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, P...	ORPHA:217085
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Retinal degeneration, Hepatomegaly, Abnormal rib morphology, Rod-cone ...	ORPHA:581
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Muscular ventric...	ORPHA:66634
Fanconi Anemia, Complementation Group S	Microphthalmia, Clinodactyly, Proximal placement of thumb	OMIM:617883
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Transient neutropenia, Chronic...	ORPHA:500095
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Optic atro...	OMIM:220110
Joubert Syndrome 37	Microphthalmia, Postaxial polydactyly	OMIM:619185
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Hip dyspl...	ORPHA:457284
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab...	ORPHA:3472
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Brachydactyly, Abnormal acetabulum morphology, Retinal dystrophy, Hypospadias, Postaxial polydact...	ORPHA:397715
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, P...	ORPHA:217093
Momo Syndrome	Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Abnormal bone ossification,...	ORPHA:2563
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Thromb...	OMIM:259720
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Hypospadias, Optic atrophy, Hypoplastic pubic bone, Cone-shaped epiphyses of the...	OMIM:210730
Dysosteosclerosis	Optic atrophy, Abnormal metaphyseal trabeculation, Flared metaphysis, Narrow iliac wing, Short st...	OMIM:224300
Mogs-Cdg	Absent brainstem auditory responses, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Opt...	ORPHA:79330
Spondyloocular Syndrome	Long toe, Retinal detachment, Cataract, Arachnodactyly, Femur fracture, Overlapping toe, Unilater...	OMIM:605822
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Chromosome 17Q12 Deletion Syndrome	Long toe, Multicystic kidney dysplasia, Unilateral renal agenesis, Long fingers, Cryptorchidism, ...	OMIM:614527
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Coronal craniosynostosis	ORPHA:228390
Cockayne Syndrome A	Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the hand, Square pelvis bone...	OMIM:216400
Stevenson-Carey Syndrome	Microphthalmia, Hip dysplasia, Camptodactyly	OMIM:611961
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Corneal opacity, Ventricular septal defect, Hypospadias, T...	ORPHA:464311
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Unilateral renal agenesis, Bifid distal phalanx of the thumb, Hypoplasia of the...	OMIM:618419
Oeis Complex	11 pairs of ribs, Congenital hip dislocation, Hydroureter, Bifid uterus, Epispadias, Cryptorchidi...	OMIM:258040
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Myoclonic-Astatic Epilepsy	Microphthalmia, Syndactyly	ORPHA:1942
Xeroderma Pigmentosum, Complementation Group B	Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Hypogonadism	OMIM:610651
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Marden-Walker Syndrome	Arachnodactyly, Micrognathia, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Micropht...	OMIM:248700
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Meckel Syndrome, Type 4	Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly	OMIM:611134
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Bilateral microphthalmos, Cortical thickening...	ORPHA:93325
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Missing ribs, Precocious puberty, Optic ...	ORPHA:50
Phace Association	Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental ...	OMIM:606519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:616538
Satoyoshi Syndrome	Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,...	OMIM:600705
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Corneal opacity, Abnormal heart v...	ORPHA:580
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Lower limb asymmetry, Split hand, Hyp...	ORPHA:2092
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat...	OMIM:267750
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Seckel Syndrome 7	Abnormal carpal morphology, Hypoplasia of the uterus, Hip dysplasia, Clinodactyly of the 5th fing...	OMIM:614851
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Hypospadias, Sclerocornea, Precocious puberty, 2-3 toe syndactyly, Microcornea, Colobom...	OMIM:615877
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short foot, Hand polydactyly, Talipes equinovarus, Foot pol...	ORPHA:250989
Tarp Syndrome	Finger syndactyly, Extramedullary hematopoiesis, Rocker bottom foot, Postaxial polydactyly, Crypt...	ORPHA:2886
Cockayne Syndrome	Urinary incontinence, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Hepatom...	ORPHA:191
Joubert Syndrome 8	Optic disc pallor, Prolonged neonatal jaundice, Pigmentary retinopathy, Hepatomegaly	OMIM:612291
Baraitser-Winter Syndrome 1	Microphthalmia, Duplication of phalanx of hallux	OMIM:243310
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Aplasia of the ulna, Cryptorchidism...	ORPHA:2879
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio...	OMIM:613154
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi...	ORPHA:83628
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl...	ORPHA:1606
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Abnormal heart valve morphology, Arachno...	ORPHA:280
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis...	OMIM:618775
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Micrognathia, Tapered finger, Slender toe, Genu va...	ORPHA:193
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Optic neuropathy, Optic atrophy, Broad ischia, ...	OMIM:619727
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Multiple rib fractures, Femur fracture, Splenomegaly, Optic atrophy, Optic nerve co...	OMIM:612301
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Sclerocornea, Proximal placement of thumb, Atrial septal defect, Atrioventri...	ORPHA:818
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L...	OMIM:260920
Steinfeld Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Tapered finger, Micrognathia, Short thumb, Cutaneous syndactyly, Talipes equinov...	OMIM:619148
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Abnormal foot morphology, Bilateral microphthalmos, Camptodactyly, Clinodactyly	ORPHA:369891
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Wolf-Hirschhorn Syndrome	Atrial septal defect, Iris coloboma, Accessory spleen, Pseudoepiphyses of the metacarpals, Hyposp...	OMIM:194190
Primary Hyperoxaluria	Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol...	ORPHA:416
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Increased ur...	ORPHA:90793
Aicardi Syndrome	Retinal detachment, Cataract, Proximal placement of thumb, Missing ribs, Precocious puberty, Chor...	OMIM:304050
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Microphthalmia, Anophthalmia	ORPHA:77298
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Hepatomegaly, ...	ORPHA:394
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, S...	ORPHA:2538
Arima Syndrome	Hepatomegaly, Retinal dystrophy, Proteinuria, Polyuria, Postaxial hand polydactyly, Optic atrophy...	OMIM:243910
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Pes planus, 2-3 toe syndactyly, Joint contracture of the 5th finger, Prominent fingertip pads, Mi...	OMIM:620098
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal peripheral myelination, Abnormal auditor...	OMIM:133540
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Retinal vascular proliferati...	OMIM:308300
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:168558
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Ureterocele,...	OMIM:614863
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus...	ORPHA:2729
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping fingers, Overlapping toe, Deviation of the 2nd finger, 2-3 toe syn...	ORPHA:464738
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Optic neuropathy, Retinal cryst...	OMIM:259900
Fabry Disease	Conjunctival telangiectasia, Abnormal endocardium morphology, Renal insufficiency, Cataract, Corn...	ORPHA:324
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:289548
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Micrognathia, Short thumb, Osteoporosis, Small hand, Short foot, Tali...	OMIM:268400
Neurocardiofaciodigital Syndrome	Optic disc pallor, Syndactyly, Cataract, Sclerocornea, Vesicoureteral reflux, Double inlet left v...	OMIM:619869
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers	ORPHA:335
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Plantar pits, Irregular ossification of hand bones, Polydactyly, Short ri...	OMIM:109400
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Os...	OMIM:309000
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Lymphangioleiomyomatosis	Abnormal urinary color, Retinal hamartoma, Abnormality of the lymphatic system, Optic atrophy, Ch...	ORPHA:538
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Metaphyseal widening, Phthisis bulbi, Osteoporosis, Tibial bowing, Microphthalmia	OMIM:259770
Heart And Brain Malformation Syndrome	Hand clenching, Microphthalmia, Camptodactyly of finger	OMIM:616920
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Cataract, Remnants of the hyalo...	OMIM:619539
Chromosome 1Q41-Q42 Deletion Syndrome	3-4 finger cutaneous syndactyly, Microphthalmia, Sandal gap, Talipes equinovarus	OMIM:612530
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Long fingers, Cryptorchidism, ...	ORPHA:96121
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Galloway-Mowat Syndrome 3	Arachnodactyly, Micrognathia, Hip dislocation, Hypoalbuminemia, Camptodactyly, Microphthalmia	OMIM:617729
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Retinal...	ORPHA:42775
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of...	ORPHA:3109
Galloway-Mowat Syndrome 1	Micrognathia, Hypoplasia of the iris, Hypoalbuminemia, Talipes equinovarus, Camptodactyly, Hand c...	OMIM:251300
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Blau Syndrome	Pericarditis, Cataract, Facial palsy, Camptodactyly of finger, Abnormal retinal vascular morpholo...	ORPHA:90340
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Crani...	ORPHA:2785
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Micrognathia, Camptodactyly of finger, Hip dislocation, Finger cl...	ORPHA:99776
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst...	ORPHA:137675
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen...	ORPHA:284339
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Metatarsus adductus, Talipes equinov...	OMIM:272950
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Renal hypoplasia, Genu va...	OMIM:619321
Oculodentodigital Dysplasia	4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Short middle phalanx...	OMIM:164200
Peters Plus Syndrome	Ureteral duplication, Bicuspid pulmonary valve, Microcornea, Clitoral hypoplasia, Clinodactyly of...	ORPHA:709
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Micrognathia, Camptodactyly, Microphthalmia	OMIM:614230
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microphthalmia	OMIM:603467
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Hallermann-Streiff Syndrome	Micrognathia, Small hand, Reduced bone mineral density, Short foot, Short ribs, Clinodactyly of t...	ORPHA:2108
Frontorhiny	Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clinodactyly, Microphthalmia, Brachy...	ORPHA:391474
Joubert Syndrome 21	Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Short ribs, Retinopathy	OMIM:615636
Charge Syndrome	Bifid scrotum, Abnormal tibia morphology, Chorioretinal coloboma, Vesicoureteral reflux, Clinodac...	ORPHA:138
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Micrognathia, Short thumb, Long thumb, Hip dysplasi...	OMIM:300895
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Microphthalmia, Overlapping toe	OMIM:618571
Fetal Alcohol Syndrome	Microphthalmia, Micrognathia	ORPHA:1915
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Proximal placement of thumb...	OMIM:261540
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Brachydactyly	ORPHA:247768
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Bone marrow hypocellula...	OMIM:614083
Rodrigues Blindness	Microphthalmia	OMIM:268320
Renal Cysts And Diabetes Syndrome	Hypospadias, Proteinuria, Unilateral renal agenesis, Biliary tract abnormality, Renal hypoplasia,...	OMIM:137920
Fanconi Anemia, Complementation Group E	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:600901
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Mend Syndrome	Overlapping fingers, Broad hallux, Overlapping toe, Micrognathia, Long fingers, Elevated 8-dehydr...	ORPHA:401973
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Joubert Syndrome 14	Microphthalmia, Postaxial polydactyly	OMIM:614424
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger	OMIM:201180
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal metacarpal morphology, Microph...	ORPHA:284160
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Absent thumb, Short thumb, Ulna...	OMIM:263650
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Clitoral...	OMIM:305600
Charge Syndrome	External genital hypoplasia, Secundum atrial septal defect, Hand monodactyly, Coloboma, Atrial se...	OMIM:214800
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Choroidal neovascularization, Sterile pyuria, Tubulointerstitial nephritis, Am...	ORPHA:91500
Incontinentia Pigmenti	Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Osteolysis, Absent hand, De...	ORPHA:464
Fanconi Anemia	Pes planus, Finger syndactyly, Toe syndactyly, Hypoplasia of the ulna, Abnormal morphology of uln...	ORPHA:84
Exstrophy-Epispadias Complex	Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis...	ORPHA:322
Proboscis Lateralis	Cataract, Corneal opacity, Optic nerve hypoplasia, Ventricular septal defect, External genital hy...	ORPHA:141099
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Micrognathia, Hypoplasia of the radius, Hip dislocation, Mic...	ORPHA:3412
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Lower limb asymmetry, Micrognathia	ORPHA:2505
Coffin-Siris Syndrome 1	Ectopic kidney, Prominent interphalangeal joints, Prominent fingertip pads, Clinodactyly of the 5...	OMIM:135900
Fanconi Anemia, Complementation Group A	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:227650
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Mic...	OMIM:264480
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Broad distal phal...	OMIM:218330
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, 2-3 toe syndactyly	OMIM:616449
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:613150
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia	OMIM:617466
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Clinodactyly of the 5th finger, Atrial septal defect, Pate...	OMIM:607872
Skin Creases, Congenital Symmetric Circumferential, 1	Long fingers, Microphthalmia, Micrognathia	OMIM:156610
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Mitral valve calcification, Pancytopenia, Corneal opacity, Aortic val...	ORPHA:2072
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Hallermann-Streiff Syndrome	Micrognathia, Metaphyseal widening, Slender long bone, Decreased number of sternal ossification c...	OMIM:234100
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Cryptorchidism, Thrombocyt...	OMIM:305000
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Wolfram Syndrome 2	Neurogenic bladder, Optic atrophy, Optic neuropathy	OMIM:604928
Alzahrani-Kuwahara Syndrome	Optic disc pallor, Cataract, Ventricular septal defect, Hypospadias, Coronary sinus enlargement, ...	OMIM:619268
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Fanconi Anemia, Complementation Group C	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:227645
Frontonasal Dysplasia 2	Microphthalmia, Craniosynostosis	OMIM:613451
Joubert Syndrome 2	Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, Abnormal foot morphology	OMIM:608091
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Coloboma, Atrial septal defect, Phocomelia, Accessory spleen, Syndactyly, Hypopl...	OMIM:268300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb...	OMIM:227646
Leptospirosis	Papilledema, Pericarditis, Hepatomegaly, Cellular urinary casts, Jaundice, Retinal hemorrhage, He...	ORPHA:509
3Q29 Microdeletion Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Tapered finger	ORPHA:65286
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Camptodactyly of finger, Broad thumb, Tapered finger	ORPHA:1236
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Premature pubarche, Hypogonadotropic hypogonadism, Abnormal external genitali...	ORPHA:90794
Fryns Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Short distal phalanx of finger, Micrognathia	ORPHA:2059
Mycophenolate Mofetil Embryopathy	Short palm, Microphthalmia, Foot polydactyly, Micrognathia	ORPHA:268249
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of...	ORPHA:364577
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Myhre Syndrome	Overlapping toe, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Short long bone, Short fin...	OMIM:139210
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Neu-Laxova Syndrome 1	Finger syndactyly, Cataract, Ventricular septal defect, Toe syndactyly, Rocker bottom foot, Bifid...	OMIM:256520
Trisomy 18	Microretrognathia, Camptodactyly of finger, Abnormality of the lower limb, Postaxial hand polydac...	ORPHA:3380
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Perrault Syndrome 4	Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary	OMIM:615300
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Osteomalacia, Micrognathia, Hip dislocation, Genu valgum, Buphthalmo...	ORPHA:534
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Craniosynostosis, Tapered finger, Micrognathia, Small hand, Hip dysplasia, Micr...	OMIM:620005
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Micrognathia, Camptodactyly...	OMIM:249000
Dubowitz Syndrome	Syndactyly, Pes planus, Micrognathia, Hypoplasia of the iris, Hypocholesterolemia, Clinodactyly o...	OMIM:223370
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Craniofacial osteo...	OMIM:300373
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Enlarged labia minora	OMIM:266270
Kinsship Syndrome	Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyl...	OMIM:619297
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,...	ORPHA:1587
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Mosaic Variegated Aneuploidy Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Osteolysis, Micrognathia	ORPHA:1052
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Abnormal pupil morphology, ...	ORPHA:261552
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Chronic irritative conjunctivitis, 3-4 finger cutaneous syndactyly, A...	ORPHA:69085
Cat Eye Syndrome	Absent radius, Microphthalmia, Micrognathia	OMIM:115470
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Craniosynostosis, Hypoplasia of mandible relative to ...	ORPHA:33364
Holoprosencephaly	Hyponatremia, Anophthalmia, Talipes, Hand polydactyly, Microphthalmia, Brachydactyly	ORPHA:2162
Degcags Syndrome	Osteopenia, Syndactyly, Toe syndactyly, Craniosynostosis, Micrognathia, Short thumb, Preaxial han...	OMIM:619488
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges ...	OMIM:130050
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Pes planus, Broad hallux, Arachnodactyly, Short finger, Microphthalmia	OMIM:601552
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Delayed epiphyseal ossification, Hypoplasia of the uterus	ORPHA:785
Skin Creases, Congenital Symmetric Circumferential, 2	Pes planus, Tapered finger, Micrognathia, Long fingers, 2-3 toe syndactyly, Short palm, Clinodact...	OMIM:616734
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Adducted thumb	OMIM:618874
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Micrognathia, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ...	OMIM:608670
Fryns Syndrome	Microretrognathia, Rocker bottom foot, Proximal placement of thumb, Short thumb, Camptodactyly, P...	OMIM:229850
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Optic nerve hypoplasia, Craniosynostosis, Ankle flexion...	ORPHA:468631
Treacher-Collins Syndrome	Microphthalmia, Abnormality of bone mineral density, Micrognathia	ORPHA:861
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Single ...	OMIM:157170
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va...	OMIM:303600
Monosomy 9Q22.3	Microphthalmia, Plantar pits, Polydactyly	ORPHA:77301
Lymphedema-Distichiasis Syndrome	Microphthalmia, Micrognathia	OMIM:153400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Arachnodactyly, Hyp...	OMIM:201750
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Pes planus, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Duplication...	OMIM:612474
Monosomy 9P	Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Postaxial hand polyda...	ORPHA:261112
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Syndactyly, Unilateral brachydactyly, Bifid uterus	ORPHA:1521
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
22Q11.2 Deletion Syndrome	Arachnodactyly, Micrognathia, Multiple suture craniosynostosis, Hand polydactyly, Talipes equinov...	ORPHA:567
Linear Nevus Sebaceus Syndrome	Microphthalmia, Genu recurvatum	ORPHA:2612
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Micrognathia, Short middle ph...	OMIM:607932
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Micrognathia, Hip dysplasia, Clinodactyly of the 5th finger, Microphthalmia	OMIM:616975
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Postaxial hand polydactyly, Talipes, Micrognathia	ORPHA:2166
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
8Q24.3 Microdeletion Syndrome	Microretrognathia, Pes planus, Long toe, Congenital hip dislocation, Short femur, Optic nerve hyp...	ORPHA:508488
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Pallister-Hall Syndrome	Microretrognathia, Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowi...	ORPHA:672
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Finger clinodactyly, Aplasia/Hypoplasia of the frontal sinuses, Micropht...	ORPHA:306542
Fraser Syndrome 2	Microphthalmia, Cutaneous syndactyly	OMIM:617666
Witteveen-Kolk Syndrome	Microretrognathia, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ...	OMIM:613406
Craniorachischisis	Bifid sternum	ORPHA:63260
Fontaine Progeroid Syndrome	Syndactyly, Craniosynostosis, Micrognathia, Absent distal phalanges, Microphthalmia, Coronal cran...	OMIM:612289
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Micrognathia, Hip dislocation, Clinodactyly of the 5th finger, Microphthalmia	OMIM:613884
Holoprosencephaly 9	Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Broad hallux, Micrognathia, Unconjugated hyperbilirubinemia, Microphthalmia, Clinodactyly	OMIM:620186
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa...	ORPHA:64
Pallister-Killian Syndrome	Congenital hip dislocation, Small scrotum, Renal cyst, Camptodactyly of 2nd-5th fingers, Short pa...	OMIM:601803
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Tetraamelia Syndrome 1	Microphthalmia, Hypoplastic pelvis, Tetraamelia, Micrognathia	OMIM:273395
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Renpenning Syndrome 1	Micrognathia, Narrow foot, Synostosis of the proximal phalanx of the thumb with the 1st metacarpa...	OMIM:309500
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Microphthalmia With Linear Skin Defects Syndrome	Mandibular aplasia, Microphthalmia, Anophthalmia, Micrognathia	ORPHA:2556
Adams-Oliver Syndrome 1	Microphthalmia, Toe syndactyly, Talipes equinovarus, Brachydactyly	OMIM:100300
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Paranasal sinus hypoplasia	OMIM:603457
Vascular Ehlers-Danlos Syndrome	Keratoconus, Congenital hip dislocation, Abnormal heart valve morphology, Hypospadias, Cryptorchi...	ORPHA:286
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi...	ORPHA:3464
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Aplasia/Hypoplasia of the sternum, Bilateral micro...	OMIM:219000
Fraser Syndrome	Finger syndactyly, Toe syndactyly, Anophthalmia, Microphthalmia, Wide pubic symphysis	ORPHA:2052
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Pes planus, Syndactyly, Ulnar deviation of the hand, Broad hallux, Long toe, Arach...	ORPHA:261537
Branchiooculofacial Syndrome	Anophthalmia, Proximal placement of thumb, Micrognathia, Short thumb, Preaxial hand polydactyly, ...	OMIM:113620
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:175780
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Uterine rupture	ORPHA:60030
Mowat-Wilson Syndrome	Hallux valgus, Pes planus, Syndactyly, Ulnar deviation of the hand, Broad hallux, Long toe, Taper...	ORPHA:2152
Treacher Collins Syndrome 1	Bilateral microphthalmos, Micrognathia	OMIM:154500
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Down-sloping shoulders, Short clavicles, Radial deviation of finger, Ca...	OMIM:309800
Craniofacial Microsomia 1	Anophthalmia, Micrognathia, Partial duplication of thumb phalanx, Genu valgum, Microphthalmia, Ve...	OMIM:164210
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730

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.

Phenotype	Allele	Zygosity	Life Stage
Femur - MPATH diagnostic term osteopenia	Ptp4a1^em2(IMPC)Tcp	HOM	Early adult
Femur - MPATH pathological entity term osteopenia	Ptp4a1^em2(IMPC)Tcp	HOM	Early adult
Femur - MPATH pathological process term hypoplasia	Ptp4a1^em2(IMPC)Tcp	HOM	Early adult
Femur - MPATH pathological process term hypoplasia	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult
Femur - MPATH pathological entity term osteopenia	Ptp4a1^em2(IMPC)Tcp	HOM	Late adult
Femur - hypoplasia	Ptp4a1^em2(IMPC)Tcp	HOM	Early adult

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 Ptp4a1.

No publications found that use IMPC mice or data for Ptp4a1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ptp4a1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ptp4a1^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Ptp4a1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ptp4a1^em2(IMPC)Tcp	Exon Deletion	Mice, Tissue

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: Ptp4a1 MGI:1277096

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IMPC related publications

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