Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:85275 |
Nanophthalmos 1 |
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Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
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Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
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Microphthalmia |
OMIM:609549 |
Microphthalmia, Isolated 1 |
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Anophthalmia, Microphthalmia |
OMIM:251600 |
Microphthalmia, Isolated, With Coloboma 10 |
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Anophthalmia, Microphthalmia |
OMIM:616428 |
Microphthalmia, Isolated 3 |
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Anophthalmia, Microphthalmia |
OMIM:611038 |
Microphthalmia, Isolated, With Coloboma 5 |
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Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Microphthalmia, Isolated, With Coloboma 7 |
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Microphthalmia |
OMIM:614497 |
Fryns Microphthalmia Syndrome |
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Anophthalmia, Microphthalmia |
OMIM:600776 |
Dextrocardia With Unusual Facies And Microphthalmia |
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Anophthalmia, Microphthalmia |
OMIM:221950 |
Microphthalmia, Syndromic 12 |
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Anophthalmia, Microphthalmia |
OMIM:615524 |
Anencephaly 2 |
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Anophthalmia |
OMIM:619452 |
Glycogen Storage Disease Vi |
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Hepatomegaly, Failure to thrive in infancy, Increased hepatic glycogen content, Postnatal growth ... |
OMIM:232700 |
Xeroderma Pigmentosum, Complementation Group G |
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Defective DNA repair after ultraviolet radiation damage, Growth delay |
OMIM:278780 |
Xeroderma Pigmentosum, Complementation Group F |
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Decreased body weight, Short stature, Defective DNA repair after ultraviolet radiation damage |
OMIM:278760 |
Meckel Syndrome, Type 8 |
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Anophthalmia, Microphthalmia |
OMIM:613885 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
Manitoba Oculotrichoanal Syndrome |
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Anophthalmia, Microphthalmia |
OMIM:248450 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Intrauterine growth retardation, Failure to thrive, Decreased liver function, Hepatic steatosis, ... |
OMIM:617093 |
Oculocerebrocutaneous Syndrome |
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Anophthalmia, Microphthalmia |
OMIM:164180 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Anophthalmia |
ORPHA:411986 |
Oculotrichoanal Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2717 |
Congenital Primary Aphakia |
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Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia |
ORPHA:83461 |
Anophthalmia Plus Syndrome |
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Anophthalmia |
ORPHA:1104 |
Trisomy 13 |
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Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris |
ORPHA:3378 |
Microphthalmia, Syndromic 5 |
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Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
OMIM:610125 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Anophthalmia, Microphthalmia |
OMIM:615877 |
Solitary Median Maxillary Central Incisor |
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Anophthalmia, Microphthalmia |
OMIM:147250 |
Microphthalmia With Limb Anomalies |
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Anophthalmia, Microphthalmia |
OMIM:206920 |
Cerebrooculonasal Syndrome |
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Anophthalmia |
ORPHA:66625 |
Microphthalmia With Brain And Digit Anomalies |
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Anophthalmia, Microphthalmia |
ORPHA:139471 |
Hydrolethalus |
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Anophthalmia, Microphthalmia |
ORPHA:2189 |
Glycogen Storage Disease Ixc |
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Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome... |
OMIM:613027 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:77298 |
Matthew-Wood Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2470 |
Cockayne Syndrome Type 2 |
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Anophthalmia |
ORPHA:90322 |
Microphthalmia, Syndromic 3 |
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Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
OMIM:206900 |
Walker-Warburg Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:899 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
Fanconi Anemia, Complementation Group D2 |
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Short stature, Deficient excision of UV-induced pyrimidine dimers in DNA, Small for gestational a... |
OMIM:227646 |
Fanconi Anemia, Complementation Group E |
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Short stature, Small for gestational age, Deficient excision of UV-induced pyrimidine dimers in DNA |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
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Short stature, Small for gestational age, Deficient excision of UV-induced pyrimidine dimers in DNA |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
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Short stature, Intrauterine growth retardation, Small for gestational age, Deficient excision of ... |
OMIM:227645 |
De Sanctis-Cacchione Syndrome |
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Defective DNA repair after ultraviolet radiation damage, Severe short stature |
OMIM:278800 |
Trisomy 1Q |
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Anophthalmia |
ORPHA:261344 |
Microphthalmia, Syndromic 9 |
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Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Xeroderma Pigmentosum, Complementation Group E |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Cockayne Syndrome Type 1 |
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Anophthalmia |
ORPHA:90321 |
Xeroderma Pigmentosum, Complementation Group C |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2250 |
Xeroderma Pigmentosum, Complementation Group A |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Anophthalmia, Aniridia |
ORPHA:1101 |
Fibular Hemimelia |
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Anophthalmia |
ORPHA:93323 |
Vacterl With Hydrocephalus |
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Anophthalmia, Microphthalmia |
ORPHA:3412 |
Trichothiodystrophy |
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Defective DNA repair after ultraviolet radiation damage, Intrauterine growth retardation |
ORPHA:33364 |
Joubert Syndrome 21 |
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Anophthalmia |
OMIM:615636 |
Cerebrooculonasal Syndrome |
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Anophthalmia |
OMIM:605627 |
Holoprosencephaly |
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Anophthalmia, Microphthalmia |
ORPHA:2162 |
Xeroderma Pigmentosum, Complementation Group D |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Microgastria-Limb Reduction Defects Association |
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Anophthalmia |
OMIM:156810 |
Craniofacial Microsomia |
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Anophthalmia, Microphthalmia |
OMIM:164210 |
14Q22Q23 Microdeletion Syndrome |
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Anophthalmia, Optic nerve aplasia |
ORPHA:264200 |
Meckel Syndrome |
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Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris |
ORPHA:564 |
Holoprosencephaly 9 |
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Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
OMIM:610829 |
Microgastria-Limb Reduction Defect Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2538 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2526 |
Microphthalmia With Linear Skin Defects Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2556 |
Proboscis Lateralis |
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Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
ORPHA:141099 |
Charge Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:138 |
Focal Dermal Hypoplasia |
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Anophthalmia, Microphthalmia, Aniridia |
OMIM:305600 |
Fraser Syndrome 1 |
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Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Microphthalmia, Syndromic 2 |
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Anophthalmia, Microphthalmia |
OMIM:300166 |
Fraser Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2052 |
Microphthalmia With Limb Anomalies |
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True anophthalmia, Microphthalmia |
ORPHA:1106 |
Charge Syndrome |
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Anophthalmia, Unilateral microphthalmos, Microphthalmia |
OMIM:214800 |
Branchiooculofacial Syndrome |
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Anophthalmia, Microphthalmia |
OMIM:113620 |
Microphthalmia, Syndromic 6 |
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Anophthalmia, Microphthalmia |
OMIM:607932 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Microphthalmia |
OMIM:309800 |
Xfe Progeroid Syndrome |
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Elevated hepatic transaminase, Cachexia, Severe short stature |
OMIM:610965 |
Fanconi Anemia, Complementation Group Q |
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Biliary atresia, Growth delay, Short stature |
OMIM:615272 |
Fanconi Anemia |
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Intrauterine growth retardation, Growth delay, Short stature, Azoospermia, Weight loss, Patent du... |
ORPHA:84 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Cachexia, Short stature |
ORPHA:220295 |
Xeroderma Pigmentosum |
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Failure to thrive, Short stature |
ORPHA:910 |