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Gene: Mab21l2 MGI:1346022

Gene Summary

Name:

mab-21-like 2

Synonyms:

N/A

Order Alleles

IMPC Data Collections

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
abnormal neural tube morphology	Mab21l2^em1(IMPC)Mbp	HET	E9.5	0.00
anophthalmia	Mab21l2^em1(IMPC)Mbp	HET	Early adult	0.00
decreased circulating calcium level	Mab21l2^em1(IMPC)Mbp	HET	Early adult	3.46×10^-07
abnormal placenta morphology	Mab21l2^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal heart morphology	Mab21l2^em1(IMPC)Mbp	HOM	E9.5	0.00
preweaning lethality, complete penetrance	Mab21l2^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Mab21l2^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal eye morphology	Mab21l2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta vasculature	Mab21l2^em1(IMPC)Mbp	HET	E15.5	0.00
decreased circulating creatinine level	Mab21l2^em1(IMPC)Mbp	HET	Early adult	5.00×10^-05
prenatal lethality prior to heart atrial septation	Mab21l2^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Mab21l2^em1(IMPC)Mbp	HET	E15.5	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E14.5-E15.5

Images

7 Images

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Gross Morphology Embryo E9.5

Images

17 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E18.5

Images

2 Images

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Human diseases caused by Mab21l2 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 Mab21l2 (1 diseases)
Human diseases predicted to be associated with Mab21l2 (1093 diseases)

The table below shows human diseases associated to Mab21l2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome		Microphthalmia, Anophthalmia	OMIM:615877

The table below shows human diseases predicted to be associated to Mab21l2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Donnai-Barrow Syndrome	Omphalocele, Retinal detachment, Ventricular septal defect, Retinal dystrophy, Congenital diaphra...	ORPHA:2143
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Inguinal hernia, Macular coloboma, Chorioretinal coloboma, U...	ORPHA:2196
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Omphalocele	Omphalocele	ORPHA:660
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Adamantinoma	Hypercalcemia	ORPHA:55881
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C...	OMIM:616108
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Cardiomyopathy	OMIM:609016
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Coloboma, Ventricular septal defect	OMIM:601357
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Donnai-Barrow Syndrome	Omphalocele, Retinal detachment, Cataract, Ventricular septal defect, Retinal dystrophy, Congenit...	OMIM:222448
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
2P21 Microdeletion Syndrome	Hypocalcemia, Cystinuria	ORPHA:163693
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis	ORPHA:1259
Fetal Encasement Syndrome	Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:613630
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Cataract, Ventricular septal defect	ORPHA:93267
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele	OMIM:258320
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Pseudodiastrophic Dysplasia	Omphalocele	ORPHA:85174
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy	ORPHA:3156
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Optic atrophy, Arthrogryp...	ORPHA:1466
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Fetal Valproate Spectrum Disorder	Omphalocele	ORPHA:1906
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Ring Chromosome 10 Syndrome	Microphthalmia, Hypocalcemia	ORPHA:1438
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Intrauterine growth retardation	OMIM:616570
Joint Laxity, Short Stature, And Myopia	Retinal detachment, Inguinal hernia, Chorioretinal coloboma, Umbilical hernia, Iris coloboma	OMIM:617662
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho...	ORPHA:816
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Biemond Syndrome Type 2	Microphthalmia, Hydrocephalus, Short stature, Delayed puberty	ORPHA:141333
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus	ORPHA:1528
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract	ORPHA:324416
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2141
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Anencephaly 2	Anophthalmia	OMIM:619452
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Papilledema, Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse...	ORPHA:371428
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Miller-Dieker Syndrome	Omphalocele	ORPHA:531
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia	OMIM:275100
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co...	ORPHA:2334
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Triploidy	Omphalocele, Abnormal cardiac septum morphology, Iris coloboma, Cataract	ORPHA:3376
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Umbilical hernia	ORPHA:254534
Nanophthalmos 4	Microphthalmia	OMIM:615972
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Ventricular septal defect, Corneal opacity, Congenital diaphragmati...	ORPHA:2092
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Juvenile cataract	ORPHA:1264
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Hypocalcemia	OMIM:602361
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Hartsfield Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation, Lobar holoprosencephaly	ORPHA:2117
Acalvaria	Omphalocele	ORPHA:945
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration, Cardiomyopathy	OMIM:520000
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Cataract	OMIM:614307
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus	OMIM:614830
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Carpenter Syndrome 1	Omphalocele, Ventricular septal defect, Optic atrophy, Microcornea, Joint contracture of the hand...	OMIM:201000
Ramon Syndrome	Abnormality of retinal pigmentation, Abnormal anterior chamber morphology, Abnormal dental enamel...	ORPHA:3019
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele	OMIM:614450
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Cystinuria	OMIM:606407
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Diprosopus	Abnormality of retinal pigmentation, Abnormal cardiac septum morphology	ORPHA:1681
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Boomerang Dysplasia	Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:1263
Mulibrey Nanism	Corneal dystrophy, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Astigmatism, Perica...	OMIM:253250
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele, Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outl...	OMIM:618316
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal opacity, Aplasi...	ORPHA:290
Distal Duplication 15Q	Omphalocele, Camptodactyly of finger	ORPHA:1707
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:603194
Trisomy 18	Omphalocele, Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Camptodact...	ORPHA:3380
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Pseudotrisomy 13 Syndrome	Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atr...	OMIM:264480
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Optic atrophy, ...	OMIM:609033
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Trigonocephaly 1	Omphalocele	OMIM:190440
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Flexion contracture, Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:263210
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retar...	OMIM:611134
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Congenital diaphragmatic hernia	OMIM:601163
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Abnormality of retinal pigmentation, Cataract	ORPHA:3085
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616171
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Patent foramen ovale, Part...	ORPHA:1686
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Dextrocardia, ...	OMIM:615994
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the abdominal wall musculature, Retino...	ORPHA:578
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Bicuspid aortic valve	ORPHA:397951
Cat-Eye Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:195
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Atrial septal defect, Overriding aorta, Ventricular septal defect	OMIM:601927
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Flexion contracture, Pu...	OMIM:608149
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Astigmatism, Distal arthrogryposi...	OMIM:108145
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes...	ORPHA:1873
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia	OMIM:127000
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Isolated Anencephaly	Omphalocele, Congenital diaphragmatic hernia	ORPHA:563609
Sanjad-Sakati Syndrome	Aplasia/Hypoplasia affecting the eye, Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Pigmentary retinopathy, Left ventricu...	OMIM:252011
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Mixed astigmatism, Attenuation of re...	OMIM:617023
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Schisis Association	Omphalocele, Congenital diaphragmatic hernia	ORPHA:63862
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Short stature	OMIM:610023
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Microphthalmia, Syndromic 13	Microphthalmia, Short stature	OMIM:300915
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid...	ORPHA:411634
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract	OMIM:616722
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Timothy Syndrome	Hypocalcemia	OMIM:601005
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Prune belly	OMIM:601389
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Mmep Syndrome	Microphthalmia	ORPHA:3434
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Transposition of the great arteries...	OMIM:313850
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Intrauterine growth retardation	ORPHA:858
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Fibrochondrogenesis 1	Omphalocele, Stillbirth, Camptodactyly, Megalocornea, Joint contracture of the hand, Patent foram...	OMIM:228520
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:3378
Right Atrial Isomerism	Inguinal hernia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus ...	OMIM:208530
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Dextrocardia	OMIM:606217
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Aniridia-Absent Patella Syndrome	Aniridia, Inguinal hernia, Cataract	ORPHA:1069
Cln3 Disease	Cataract, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Left ventricular hypertr...	ORPHA:228346
Caudal Duplication	Omphalocele	ORPHA:1756
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Cardiomyopathy, Hypopigmentation of...	ORPHA:1493
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Hypertrophic cardiomyopathy	OMIM:618234
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Ventricular septal defect	OMIM:617895
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Inguinal hernia, Cataract, Abnormality of the abdominal wall, Abnormal heart morphol...	OMIM:247200
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Colonic Atresia	Omphalocele, Gastroschisis	ORPHA:1198
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Canavan Disease	Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy	ORPHA:141
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr...	ORPHA:897
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Hy...	ORPHA:5
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Chromosome 9P Deletion Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Perimembranous ventricular septal defect...	OMIM:158170
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Ca...	OMIM:306955
D-Lactic Aciduria With Gout	Aniridia, Inguinal hernia	OMIM:245450
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy, Subcapsular cataract	OMIM:268020
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Optic d...	OMIM:618454
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Hydrocephalus, Microphthalmia, Intrauterine growth retardation	OMIM:300863
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Multiple joint contractures, Abnormality of connective tissue	ORPHA:370968
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation, Multiple lipomas	ORPHA:122
Trisomy 1Q	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:261344
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Limbal dermoid, Congenital diaphragmatic hernia	ORPHA:1834
Bladder Exstrophy	Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy	ORPHA:93930
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:48431
Constricting Bands, Congenital	Omphalocele, Ectopia cordis, Bladder exstrophy, Gastroschisis	OMIM:217100
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Codas Syndrome	Omphalocele, Cataract, Ventricular septal defect, Developmental cataract, Atrial septal defect, A...	OMIM:600373
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Holoprosencephaly	Omphalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragm...	ORPHA:2162
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia, Abnormally large globe	ORPHA:1655
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Pentalogy Of Cantrell	Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic...	ORPHA:1335
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Chromosome 6Pter-P24 Deletion Syndrome	Posterior embryotoxon, Ventricular septal defect, Pigmentary retinopathy, Umbilical hernia, Axenf...	OMIM:612582
Knobloch Syndrome	Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Abnormal vitreous humor morphology, M...	ORPHA:1571
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Camptodactyly, Umbilical hern...	ORPHA:254528
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Teebi Hypertelorism Syndrome 1	Omphalocele, Atrial septal defect, Ventricular septal defect	OMIM:145420
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Overriding aorta, Cyclopia, Tetralogy of Fallot, Iris coloboma	ORPHA:3186
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Brittle Cornea Syndrome 2	Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decrease...	OMIM:614170
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia, Abnormal circulating creatine kinase concentration	ORPHA:899
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia	ORPHA:95706
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Fryns Syndrome	Omphalocele, Corneal opacity, Congenital diaphragmatic hernia, Abnormal cardiac septum morphology...	ORPHA:2059
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger	ORPHA:2521
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Mosaic Trisomy 1	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:1692
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Pigmentary reti...	ORPHA:88628
Refsum Disease	Abnormality of retinal pigmentation, Cataract, Retinopathy, Cardiomyopathy	ORPHA:773
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Robinow Syndrome, Autosomal Recessive 2	Omphalocele, Bicuspid aortic valve, Camptodactyly, Ventral hernia	OMIM:618529
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, Cardiomyopathy	ORPHA:329336
Otopalatodigital Syndrome Type 2	Omphalocele, Cataract, Abnormal heart valve morphology, Camptodactyly of finger, Developmental gl...	ORPHA:90652
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Popliteal pterygium	ORPHA:3329
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Aminoaciduria, Hypokalemia, Hypocalcemia	OMIM:617913
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus	OMIM:601794
Melnick-Needles Syndrome	Omphalocele, Abnormal cardiac septum morphology	ORPHA:2484
Bresek Syndrome	Optic nerve hypoplasia, Hydrocephalus, Growth delay, Microphthalmia, Intrauterine growth retardation	ORPHA:85284
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Umbilical hernia, Cyclopia, Abnormal cardiac septum morphology	ORPHA:2166
Lethal Congenital Contracture Syndrome 10	Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Astigmatism, Ventricular septal defect, Dextrocardia	OMIM:618067
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration, Abnormal heart morphology	ORPHA:79264
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
3Mc Syndrome 1	Omphalocele, Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Abnormality...	OMIM:257920
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran...	OMIM:614779
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Desmoid Tumor	Abnormality of retinal pigmentation, Abnormality of the abdominal wall	ORPHA:873
Wolfram Syndrome 1	Pigmentary retinopathy, Cataract, Optic atrophy, Cardiomyopathy	OMIM:222300
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma	ORPHA:2510
Chromosome 10Q26 Deletion Syndrome	Omphalocele, Atrial septal defect	OMIM:609625
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta, Short stature	OMIM:169550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn...	OMIM:613154
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Optic nerve dysplasia, Abnormal heart morphology, Pigmentary retinopa...	OMIM:214110
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Hydrocephalus, Microphthalmia, Intrauterine growth retardation	ORPHA:163966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Joubert Syndrome With Ocular Defect	Dextrocardia, Retinal dystrophy, Retinal coloboma, Iris coloboma	ORPHA:220493
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Hydrocephalus	OMIM:613155
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Hypophosphatasia	Hypercalcemia	ORPHA:436
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular hypertrophy, Pigmentary retinopathy, Flexion contracture	OMIM:613156
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Warburg Micro Syndrome 1	Microphthalmia, Short stature	OMIM:600118
Pagod Syndrome	Omphalocele, Congenital diaphragmatic hernia, Situs inversus totalis, Optic atrophy, Hypoplastic ...	ORPHA:991
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Corneal opacity	ORPHA:585
Pierpont Syndrome	Microphthalmia, Short stature	OMIM:602342
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Vacterl/Vater Association	Omphalocele, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:887
Cockayne Syndrome Type 2	Anophthalmia	ORPHA:90322
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Hydrocephalus	OMIM:602501
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb...	ORPHA:37042
Distal Duplication 5Q	Hernia, Ventricular septal defect, Dextrocardia, Chorioretinal coloboma	ORPHA:96097
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele	ORPHA:3035
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Enamel hypoplasia, Ventricular septal defect	OMIM:243150
Seckel Syndrome 2	Growth delay, Microphthalmia, Short stature	OMIM:606744
Bartsocas-Papas Syndrome 1	Omphalocele, Inguinal hernia, Flexion contracture, Popliteal pterygium, Opacification of the corn...	OMIM:263650
Cerebrooculofacioskeletal Syndrome 2	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:610756
Developmental And Epileptic Encephalopathy 89	Omphalocele, Flexion contracture, Neonatal death	OMIM:619124
C Syndrome	Omphalocele, Ventricular septal defect	OMIM:211750
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy	ORPHA:96
Celiac Disease, Susceptibility To, 1	Hypocalcemia	OMIM:212750
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:228390
Usher Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal dental enamel morphology, Astigmatism, Hy...	ORPHA:886
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Knee flexion contracture, Pigmentary retinopathy, Left ventricular ...	ORPHA:3208
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Neoplasm of the heart, Umbilical hernia	ORPHA:2241
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Otopalatodigital Syndrome, Type I	Omphalocele	OMIM:311300
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Ventricular septal defect, Neonatal death, Patent foramen ovale	OMIM:269860
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling, Cataract	OMIM:614105
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Opitz Gbbb Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Abnorma...	ORPHA:2745
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Cataract, Sclerocornea, Congenital diaphragmatic her...	OMIM:309801
Cockayne Syndrome Type 1	Anophthalmia, Increased blood urea nitrogen	ORPHA:90321
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Dextrocardia	ORPHA:2863
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Short stature, Unilateral microphthalmos	OMIM:619318
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Dextrocardia	OMIM:611884
Joubert Syndrome 3	Atrial septal defect, Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia	OMIM:614833
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Short stature	OMIM:300887
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Linear hyperpigmentation, Diastasis recti, Congenital diaphragmatic...	OMIM:305600
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Astigmatism	ORPHA:1824
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Rod-cone dystrophy, Diastasis recti	OMIM:618419
Mucopolysaccharidosis, Type Ii	Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Abnormal heart valve morpholog...	OMIM:309900
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Esophageal Atresia	Omphalocele, Coloboma, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1199
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Dextrocardia	OMIM:614679
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Diastasis ...	OMIM:265380
Ablepharon Macrostomia Syndrome	Omphalocele, Corneal opacity, Camptodactyly of finger, Corneal erosion, Abnormality of skin pigme...	ORPHA:920
Marshall-Smith Syndrome	Omphalocele, Ventricular septal defect, Optic nerve hypoplasia, Melanocytic nevus, Atrial septal ...	OMIM:602535
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Cartilage-Hair Hypoplasia	Aplasia/Hypoplasia affecting the eye, Hypocalcemia	ORPHA:175
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Abnormal heart valve morpholog...	ORPHA:580
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Cataract	ORPHA:79095
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Alg9-Cdg	Omphalocele, Ventricular septal defect, Lipodystrophy, Pericardial effusion, Abnormal heart morph...	ORPHA:79328
Baraitser-Winter Syndrome 2	Microphthalmia, Short stature	OMIM:614583
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Ventricular septal defect, Hypoplastic right heart, Camptodactyly, Patent foramen ovale	OMIM:616894
Fibrochondrogenesis	Omphalocele, Camptodactyly of finger	ORPHA:2021
Hyperparathyroidism, Neonatal Severe	Calcinosis, Aminoaciduria, Hypercalcemia, Hypophosphatemia	OMIM:239200
Fryns Syndrome	Omphalocele, Ventricular septal defect, Stillbirth, Aplasia of the left hemidiaphragm, Opacificat...	OMIM:229850
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Hydrocephalus	OMIM:613153
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Dextrocardia	OMIM:617577
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Ectopia lentis, Optic atrophy,...	ORPHA:394
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Dextrocardia	OMIM:618063
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia	ORPHA:63260
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short...	ORPHA:85194
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Inguinal hernia, Corneal dystrophy, Camptodactyly of finger, Abnormal vitreous humor morphology, ...	ORPHA:1101
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Xeroderma Pigmentosum, Complementation Group B	Pigmentary retinopathy, Freckling, Cataract, Optic atrophy	OMIM:610651
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Growth delay, Microphthalmia	OMIM:614424
Meacham Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of ...	OMIM:608978
Charge Syndrome	Omphalocele, Overriding aorta, Ventricular septal defect, Cataract, Secundum atrial septal defect...	OMIM:214800
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia, Hydrocephalus	OMIM:617244
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Abnormal tricuspid valve morphology...	ORPHA:192
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Short stature	ORPHA:2788
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	ORPHA:2526
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Monosomy 18P	Microphthalmia, Short stature, Holoprosencephaly	ORPHA:1598
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia	ORPHA:370959
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Ventricular septal defect, Optic at...	ORPHA:193
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Short stature	ORPHA:1791
Werner Syndrome	Abnormality of retinal pigmentation, Cataract, Lipodystrophy, Lipoatrophy, Premature graying of h...	ORPHA:902
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Diastasis recti	ORPHA:254519
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Stillbirth	OMIM:616300
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Ventricular septal defect, Camptodactyly, Atrial septal defect, Joint contracture of...	OMIM:300373
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele	ORPHA:2736
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Bilateral microphthalmos, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Abnormal heart valve morpholog...	ORPHA:217085
Pearson Syndrome	Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Keratoconjunctivitis, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy,...	OMIM:240300
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Sclerocornea, Co...	ORPHA:2556
Simpson-Golabi-Behmel Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diap...	ORPHA:373
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Abnormal heart valve morpholog...	ORPHA:217093
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Dextrocardia	OMIM:615482
Chromosome 8Q21.11 Deletion Syndrome	Lozenge-shaped umbilicus, Cataract, Sclerocornea, Pigmentary retinopathy, Camptodactyly	OMIM:614230
Limb Body Wall Complex	Ventral hernia, Ventricular septal defect, Corneal opacity, Congenital diaphragmatic hernia, Dias...	ORPHA:2369
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Microphthalmia, Intrauterine grow...	ORPHA:3412
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Okamoto Syndrome	Omphalocele, Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal ...	ORPHA:2729
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a...	OMIM:216550
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Oculopalatocerebral Syndrome	Microphthalmia, Short stature	OMIM:257910
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Optic disc coloboma, Opti...	ORPHA:50
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Short stature	ORPHA:3191
Melnick-Needles Syndrome	Omphalocele, Stillbirth, Tricuspid valve prolapse, Mitral valve prolapse	OMIM:309350
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Rodrigues Blindness	Microphthalmia, Short stature	OMIM:268320
Marden-Walker Syndrome	Inguinal hernia, Dextrocardia, Congenital contracture, Camptodactyly, Joint contracture of the hand	OMIM:248700
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Meckel Syndrome, Type 1	Omphalocele, Camptodactyly of finger, Abnormal cardiac septum morphology, Iris coloboma	OMIM:249000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Hydrocephalus, Abnormally large globe	OMIM:615249
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Mucopolysaccharidosis Type 3	Inguinal hernia, Cataract, Corneal opacity, Cardiomegaly, Flexion contracture, Optic atrophy, Pig...	ORPHA:581
Poland Syndrome	Dextrocardia	OMIM:173800
Adams-Oliver Syndrome 2	Microphthalmia, Hydrocephalus	OMIM:614219
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Mel...	ORPHA:116
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Short stature	ORPHA:2505
Sandestig-Stefanova Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:618804
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Cloacal Exstrophy	Omphalocele, Bladder exstrophy, Cloacal exstrophy	ORPHA:93929
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:494344
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Peters anomaly	OMIM:618929
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Dextrocardia	OMIM:606763
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Retina...	ORPHA:790
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Scimitar Syndrome	Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur...	ORPHA:185
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Fibular Hemimelia	Anophthalmia	ORPHA:93323
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Peripheral retinal avascularization, Ventricular septal defect, Interphalangeal join...	ORPHA:96334
Holoprosencephaly 7	Omphalocele, Iris coloboma	OMIM:610828
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy, Dilated cardiomyopathy, Subcapsular cataract	OMIM:203800
Joubert Syndrome 37	Microphthalmia, Short stature	OMIM:619185
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia	ORPHA:199299
22Q11.2 Deletion Syndrome	Microphthalmia, Hypocalcemia	ORPHA:567
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Fetal Alcohol Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1915
Acrocephalopolydactylous Dysplasia	Omphalocele	OMIM:200995
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616395
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Fanconi Anemia, Complementation Group I	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:609053
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Inguinal hernia, Keratitis, Neonatal death, Recurrent corneal erosions, Opacificatio...	OMIM:308205
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Ventricular septal defect, Dextrocar...	OMIM:300166
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Tetralogy of Fallot	ORPHA:1519
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Abnormal mitral valve morphology, Melanocytic nevus, Multipl...	ORPHA:1969
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Hyperautofluorescent macula...	OMIM:209900
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Exstrophy-Epispadias Complex	Omphalocele, Inguinal hernia, Cystocele, Abnormality of the abdominal wall, Abnormal heart morpho...	ORPHA:322
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:243310
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Limb joint contracture, Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Corona...	OMIM:614294
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Dextrocardia, Atrioventricular canal defect, Transposition of the great arteries	OMIM:314390
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Bilateral micro...	ORPHA:2839
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m...	ORPHA:261197
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy, Abnormal heart morpholog...	ORPHA:505248
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Camptodactyly o...	ORPHA:2273
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos, Short stature	ORPHA:369891
Fanconi Anemia, Complementation Group S	Microphthalmia, Short stature	OMIM:617883
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:2728
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Dextrocardia	OMIM:615444
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Abnormality of retinal pigmentation, Optic disc pallor, Reti...	ORPHA:191
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Growth delay	OMIM:120200
Iniencephaly	Omphalocele, Arthrogryposis multiplex congenita, Gastroschisis, Congenital diaphragmatic hernia	ORPHA:63259
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Astigmatism	OMIM:618820
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Ventricular septal defect	ORPHA:436252
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Kearns-Sayre Syndrome	Pigmentary retinopathy, Cardiomyopathy	OMIM:530000
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:619607
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Ventricular septal defect, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigm...	OMIM:614866
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Corneal opacity, Campto...	ORPHA:99776
Warburg Micro Syndrome 4	Severe postnatal growth retardation, Microphthalmia, Short stature	OMIM:615663
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Inguinal hernia, Cataract, Enamel hypoplasia	OMIM:272460
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Ventricular septal defect, Brushfield spots, Pigmentary retinopathy,...	OMIM:214100
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Otopalatodigital Syndrome, Type Ii	Omphalocele, Cataract, Elbow contracture, Stillbirth, Atrial septal defect, Umbilical hernia	OMIM:304120
Beckwith-Wiedemann Syndrome	Omphalocele, Cardiomyopathy, Diastasis recti, Cardiomegaly	OMIM:130650
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele, Hydrocephalus	OMIM:613150
Papillorenal Syndrome	Microphthalmia, Elevated circulating creatinine concentration	OMIM:120330
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Hydrocephalus	OMIM:616538
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Dilated cardiomyopathy	OMIM:609015
Hereditary Pheochromocytoma-Paraganglioma	Aniridia, Hypercalcemia	ORPHA:29072
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Short stature, Holoprosencephaly	OMIM:612530
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Hy...	ORPHA:636
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Lowry-Wood Syndrome	Pigmentary retinopathy, Elbow flexion contracture	OMIM:226960
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy	ORPHA:436271
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Intrauterine growth retardation	OMIM:613451
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly, Short stature	OMIM:619148
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Microphthalmia, Intrauterine growth retardation	OMIM:251230
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Adams-Oliver Syndrome	Encephalocele, Microphthalmia, Hydrocephalus	ORPHA:974
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1352
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Short stature	OMIM:617306
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation	ORPHA:2399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly	OMIM:253800
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:564
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Dilated cardiomyopathy, Optic atrophy, Abnormal heart morphology, Pigmentary re...	ORPHA:79282
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Temtamy Syndrome	Microphthalmia	OMIM:218340
Alagille Syndrome 1	Posterior embryotoxon, Cataract, Ventricular septal defect, Band keratopathy, Chorioretinal atrop...	OMIM:118450
Khan-Khan-Katsanis Syndrome	Corneal scarring, Buphthalmos, Pigmentary retinopathy, Peters anomaly, Joint contracture, Patent ...	OMIM:618460
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm, Dextrocardia	ORPHA:2437
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock	ORPHA:742
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Moebius Syndrome	Microphthalmia	OMIM:157900
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul...	OMIM:619657
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia	OMIM:616920
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Lipoma, Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy...	ORPHA:157850
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy	OMIM:220110
Abetalipoproteinemia	Abnormality of retinal pigmentation, Cardiomegaly, Keratoconjunctivitis sicca, Corneal ulceration...	ORPHA:14
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Chorioretinal lacunae, Wrist flexion contracture, Retinal pigment epith...	OMIM:618733
Pheochromocytoma	Hypercalcemia	OMIM:171300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:614643
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Optic nerve hypoplasia	OMIM:620330
Joubert Syndrome 21	Anophthalmia	OMIM:615636
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Hydrolethalus Syndrome 1	Omphalocele, Complete atrioventricular canal defect, Stillbirth, Ventricular septal defect	OMIM:236680
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Anterio...	ORPHA:91500
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Flexion contracture of finger, Cataract, Congenital finger f...	ORPHA:466768
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Retinal atrophy, Cataract, Retinal pigment ...	OMIM:216400
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Multiple lipomas	OMIM:617675
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong...	OMIM:618280
Primary Pulmonary Hypoplasia	Secundum atrial septal defect, Dextrocardia	ORPHA:2257
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Cataract, Retinal pigment epithelial mottling, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:607459
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature	ORPHA:1806
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Hypomagnesemia	OMIM:619503
Meckel Syndrome 14	Microphthalmia, Occipital encephalocele, Holoprosencephaly	OMIM:619879
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Hydrocephalus	ORPHA:3301
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele	ORPHA:3164
Cousin Syndrome	Rhizomelia, Hydrocephalus, Disproportionate short stature, Hydranencephaly, Microphthalmia	OMIM:260660
Joubert Syndrome 2	Encephalocele, Microphthalmia, Hydrocephalus	OMIM:608091
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:85138
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:244300
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Microphthalmia, Short stature	ORPHA:35173
1Q21.1 Microdeletion Syndrome	Microphthalmia, Hydrocephalus, Short stature, Intrauterine growth retardation	ORPHA:250989
Oeis Complex	Omphalocele, Bladder exstrophy, Cloacal exstrophy	OMIM:258040
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Buphthalmos...	OMIM:236670
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Hydrocephalus	OMIM:613001
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Pericardial effusion, Large clumps...	ORPHA:167
Shprintzen Omphalocele Syndrome	Omphalocele	OMIM:182210
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Short stature	OMIM:618571
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
C Syndrome	Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia	ORPHA:1308
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Charge Syndrome	Microphthalmia, Anophthalmia	ORPHA:138
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos	OMIM:219000
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Ablepharon-Macrostomia Syndrome	Omphalocele, Camptodactyly, Ventral hernia	OMIM:200110
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Kyphoscoliotic Ehlers-Danlos Syndrome	Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Microcornea, Atypical scarring of skin, Umb...	ORPHA:536545
8P Inverted Duplication/Deletion Syndrome	Contractures of the large joints, Tetralogy of Fallot, Dextrocardia, Abnormal heart morphology	ORPHA:96092
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:2714
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Cataract, Ventricular septal defect, Congenital diaphragmatic herni...	OMIM:601803
Johanson-Blizzard Syndrome	Abnormal cardiac septum morphology, Dextrocardia	ORPHA:2315
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Optic atrophy, Developmental cataract, Abnormality of skin p...	OMIM:133540
Melas	Dilated cardiomyopathy, Optic atrophy, Concentric hypertrophic cardiomyopathy, Pigmentary retinop...	ORPHA:550
Spondylocostal Dysostosis 4, Autosomal Recessive	Situs inversus totalis, Dextrocardia	OMIM:613686
Fanconi Anemia, Complementation Group F	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:603467
Dextrocardia	Situs inversus totalis, Dextrocardia, Abnormal heart morphology	ORPHA:1666
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Jacobsen Syndrome	Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Microphthalmia, Intrauterine growth retarda...	OMIM:147791
Cat Eye Syndrome	Microphthalmia, Umbilical hernia, Short stature	OMIM:115470
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Limb joint contracture, Achilles tendon contracture, ...	ORPHA:404454
Galloway-Mowat Syndrome 3	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:617729
Martsolf Syndrome 1	Microphthalmia, Short stature	OMIM:212720
Monosomy 9Q22.3	Microphthalmia, Hydrocephalus, Umbilical hernia	ORPHA:77301
Fanconi Anemia, Complementation Group L	Growth delay, Microphthalmia, Hydrocephalus, Intrauterine growth retardation	OMIM:614083
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Duane-Radial Ray Syndrome	Microphthalmia, Spina bifida occulta, Optic disc hypoplasia	OMIM:607323
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Microphthalmia, Rhizomelia	OMIM:302960
Monosomy 13Q14	Microphthalmia, Short stature, Holoprosencephaly, Intrauterine growth retardation	ORPHA:1587
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Atrial septal defect, Dextrocardia	OMIM:277380
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia, Short stature	ORPHA:464
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:251300
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Lipoatrophy, Aortic valve calcification, Patchy hypo- and hy...	ORPHA:79474
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia, Short stature	OMIM:257850
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Cataract	ORPHA:93271
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Fraser Syndrome	Omphalocele, Umbilical hernia	ORPHA:2052
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara...	ORPHA:744
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Mitochondrial Dna-Associated Leigh Syndrome	Dilated cardiomyopathy, Optic atrophy, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Rod-c...	ORPHA:255210
Basal Cell Nevus Syndrome 1	Microphthalmia, Hydrocephalus, Spina bifida	OMIM:109400
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature, Spina bifida	OMIM:234100
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Short stature	OMIM:601675
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary veno...	OMIM:270100
Microphthalmia, Lenz Type	Microphthalmia, Short stature	ORPHA:568
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Pallister-Hall Syndrome	Microphthalmia, Short stature, Holoprosencephaly, Intrauterine growth retardation	OMIM:146510
Stromme Syndrome	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:243605
Mosaic Variegated Aneuploidy Syndrome	Short stature, Growth delay, Holoprosencephaly, Microphthalmia, Intrauterine growth retardation	ORPHA:1052
Catel-Manzke Syndrome	Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly, Umbili...	OMIM:616145
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Cataract, Decr...	OMIM:606721
Fanconi Anemia, Complementation Group C	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:227645
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Chromosome 13Q14 Deletion Syndrome	Growth delay, Microphthalmia, Umbilical hernia, Holoprosencephaly	OMIM:613884
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Dubowitz Syndrome	Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine...	OMIM:223370
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:364577
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs inversus totalis, Abnorma...	ORPHA:2461
Fanconi Anemia	Short stature, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the iris, Growth delay, Umbilic...	ORPHA:84
Neurooculorenal Syndrome	Iris atrophy, Dextrocardia, Mitral valve prolapse, Tetralogy of Fallot with pulmonary stenosis, P...	OMIM:620305
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Tetrasomy 9P	Pericarditis, Abnormal chorioretinal morphology, Dextrocardia, Abnormal dental enamel morphology,...	ORPHA:3310
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inguinal hernia, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis...	OMIM:619534
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos	OMIM:618874
Cystinosis, Nephropathic	Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm...	OMIM:219800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Short stature, Optic nerve hypoplasia, Spina bifida	ORPHA:508498
Neu-Laxova Syndrome 1	Spina bifida, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalmia, Intrauterine...	OMIM:256520
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Fanconi Anemia, Complementation Group E	Microphthalmia, Short stature	OMIM:600901
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Steinfeld Syndrome	Microphthalmia, Holoprosencephaly	OMIM:184705
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive ...	OMIM:251260
Ppoma	Hypercalcemia	ORPHA:97278
Aicardi Syndrome	Postnatal growth retardation, Microphthalmia, Spina bifida	OMIM:304050
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrocephalus	ORPHA:268249
Momo Syndrome	Bilateral microphthalmos, Short stature	ORPHA:2563
Hardikar Syndrome	Ventricular septal defect, Patent foramen ovale, Partial anomalous pulmonary venous return, Pigme...	OMIM:301068
Fanconi Anemia, Complementation Group A	Microphthalmia, Short stature	OMIM:227650
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
2Q31.1 Microdeletion Syndrome	Microphthalmia, Short stature	ORPHA:251014
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy	OMIM:277400
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Teebi-Shaltout Syndrome	Microphthalmia, Short stature	OMIM:272950
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Somatostatinoma	Hypercalcemia	ORPHA:97283
Fanconi Anemia, Complementation Group D2	Microphthalmia, Hydrocephalus, Short stature	OMIM:227646
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Short stature	OMIM:308300
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Trichothiodystrophy	Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation	ORPHA:33364
Grfoma	Hypercalcemia	ORPHA:97261
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Short stature	OMIM:201180
Poland Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Retinal hamartoma, Absence of subcutaneous fat, At...	ORPHA:2911
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Mend Syndrome	Microphthalmia, Hydrocephalus, Short stature	ORPHA:401973
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Glucagonoma	Hypercalcemia	ORPHA:97280
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:620186
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Holoprosencephaly 1	Microphthalmia, Ethmocephaly, Short stature, Alobar holoprosencephaly	OMIM:236100
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia	ORPHA:959
Histiocytoid Cardiomyopathy	Microphthalmia, Hydrocephalus, Congenital aphakia	ORPHA:137675
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Severe postnatal growth retardation, Intrauterine growth retardation	OMIM:620005
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Optic nerve hypoplasia, Bilateral microphthalmos, Lobar holoprosencephaly, ...	ORPHA:468631
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616975
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Hyperpigmentation of the skin	OMIM:234200
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Cataract, Optic disc hypoplasia, Corneal opacity, Increased ...	ORPHA:3455
Oculocerebrorenal Syndrome Of Lowe	Short stature, Buphthalmos, Umbilical hernia, Delayed puberty, Microphthalmia	ORPHA:534
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Fontaine Progeroid Syndrome	Short stature, Hydrocephalus, Umbilical hernia, Microphthalmia, Intrauterine growth retardation	OMIM:612289
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Knee flexion contracture, Transposition of the great arteri...	OMIM:614976
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Short stature	OMIM:268400
Roberts Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	ORPHA:3103
Myhre Syndrome	Birth length less than 3rd percentile, Microphthalmia, Short stature, Intrauterine growth retarda...	OMIM:139210
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature	ORPHA:2108
Floating-Harbor Syndrome	Atrial septal defect, Umbilical hernia, Inguinal hernia, Mesocardia	OMIM:136140
Williams Syndrome	Aplasia/Hypoplasia of the iris, Abnormal circulating lipid concentration, Hypercalcemia, Elevated...	ORPHA:904
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Short stature	OMIM:259770
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ...	ORPHA:449395
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su...	ORPHA:99125
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation	OMIM:608670
Cockayne Syndrome Type 3	Microphthalmia, Mild postnatal growth retardation	ORPHA:90324
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Hydrocephalus	OMIM:253280
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures	OMIM:612301
Yunis-Varon Syndrome	Short stature, Postnatal growth retardation, Hydrocephalus, Bilateral microphthalmos, Microphthalmia	ORPHA:3472
Neuroocular Syndrome	Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia	OMIM:619539
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Floating-Harbor Syndrome	Atrial septal defect, Mesocardia, Abnormal anterior chamber morphology, Tetralogy of Fallot	ORPHA:2044
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Tetraamelia Syndrome 1	Microphthalmia, Hydrocephalus	OMIM:273395
Restrictive Dermopathy	Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Transposition of the great ar...	ORPHA:1662
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Short stature	OMIM:616734
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Degcags Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:619488
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210
Monosomy 9P	Microphthalmia	ORPHA:261112
Sarcoidosis	Hypercalcemia	ORPHA:797
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800
8Q24.3 Microdeletion Syndrome	Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B...	ORPHA:508488
Witteveen-Kolk Syndrome	Branchial fistula, Short stature, Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:613406
Pallister-Hall Syndrome	Short stature, Umbilical hernia, Holoprosencephaly, Microphthalmia, Intrauterine growth retardation	ORPHA:672
Williams-Beuren Syndrome	Hypercalcemia	OMIM:194050
Holoprosencephaly 2	Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly	OMIM:157170
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Renpenning Syndrome 1	Microphthalmia, Short stature	OMIM:309500
Lowe Oculocerebrorenal Syndrome	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:309000
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Hydrocephalus, Frontal encephalocele, Severe intrauterine growth re...	OMIM:268300
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Sotos Syndrome	Hypercalcemia	ORPHA:821
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty	ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Hydrocephalus	OMIM:175780
Mowat-Wilson Syndrome	Microphthalmia, Short stature	OMIM:235730
Townes-Brocks Syndrome	Microphthalmia, Short stature, Delayed puberty	ORPHA:857
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Mowat-Wilson Syndrome	Growth delay, Microphthalmia, Short stature	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Short stature	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Short stature	ORPHA:261552

Histopathology

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

There is no histopathology data for Mab21l2

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 Mab21l2.

No publications found that use IMPC mice or data for Mab21l2.

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MGI Allele	Allele Type	Produced
Mab21l2^em1(IMPC)Mbp	Whole-gene 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: Mab21l2 MGI:1346022

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

Gross Morphology Embryo E9.5

MicroCT E9.5

Gross Morphology Embryo E18.5

Human diseases caused by Mab21l2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data