Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Small for gestational age, Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Postnatal growth retar... |
OMIM:232700 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Short stature, Defective DNA repair af... |
OMIM:278760 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability |
OMIM:600546 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Immunodeficiency 54 |
|
Chromosome breakage, Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Int... |
OMIM:609981 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:3378 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Severe short stature, Cachexia, Defective DNA repair after ultravi... |
OMIM:610965 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... |
OMIM:613027 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Fanconi Anemia, Complementation Group E |
|
Short stature, Small for gestational age, Cryptorchidism, Deficient excision of UV-induced pyrimi... |
OMIM:600901 |
Cockayne Syndrome Type 2 |
|
Anophthalmia |
ORPHA:90322 |
Fanconi Anemia, Complementation Group A |
|
Short stature, Small for gestational age, Cryptorchidism, Deficient excision of UV-induced pyrimi... |
OMIM:227650 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Trisomy 1Q |
|
Anophthalmia |
ORPHA:261344 |
Fanconi Anemia, Complementation Group D2 |
|
Short stature, Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Deficient exc... |
OMIM:227646 |
Fanconi Anemia, Complementation Group C |
|
Short stature, Small for gestational age, Cryptorchidism, Deficient excision of UV-induced pyrimi... |
OMIM:227645 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Cockayne Syndrome Type 1 |
|
Anophthalmia |
ORPHA:90321 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia |
ORPHA:1101 |
Trichothiodystrophy |
|
Intrauterine growth retardation, Defective DNA repair after ultraviolet radiation damage, Cryptor... |
ORPHA:33364 |
De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Severe short stature, Defective DNA repair after ultraviolet radiation ... |
OMIM:278800 |
Fibular Hemimelia |
|
Anophthalmia |
ORPHA:93323 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Holoprosencephaly |
|
Microphthalmia, Anophthalmia |
ORPHA:2162 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:564 |
Fanconi Anemia, Complementation Group Q |
|
Growth delay, Chromosome breakage, Short stature, Biliary atresia |
OMIM:615272 |
Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Fraser Syndrome 1 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:138 |
Focal Dermal Hypoplasia |
|
Aniridia, Microphthalmia, Anophthalmia |
OMIM:305600 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia |
OMIM:300166 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia, Unilateral microphthalmos |
OMIM:214800 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:113620 |
Fanconi Anemia |
|
Abnormality of chromosome stability, Short stature, Cryptorchidism, Patent ductus arteriosus, Wei... |
ORPHA:84 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
Xeroderma Pigmentosum |
|
Cryptorchidism, Failure to thrive, Short stature, Decreased testicular size |
ORPHA:910 |