Microphthalmia
Symptom Information:
Symptom ID: | HPO:0000568 | ||||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | |||||||||||||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the eye(HPO:0000478) Abnormal eye morphology(HPO:0012372) Abnormality of the globe(HPO:0012374) Aplasia/Hypoplasia affecting the eye(HPO:0008056) Microphthalmia(HPO:0000568) Abnormality of globe size(HPO:0100887) Microphthalmia(HPO:0000568) Abnormality of head or neck(HPO:0000152) Abnormality of the head(HPO:0000234) Abnormality of the face(HPO:0000271) Abnormality of the orbital region(HPO:0000315) Abnormality of globe size(HPO:0100887) Microphthalmia(HPO:0000568) obsolete Abnormality of the ocular region(HPO:0000284) Abnormality of globe size(HPO:0100887) Microphthalmia(HPO:0000568) MedDRA: Congenital, familial and genetic disorders(MedDRA:10010331) Eye disorders congenital(MedDRA:10015920) Ocular disorders congenital NEC(MedDRA:10027673) Microphthalmia(HPO:0000568) |
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Database Frequency: | 183 / 7739 | ||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
15q24 microdeletion syndrome | (Orphanet:94065) |
17q12 microduplication syndrome | (Orphanet:261272) |
1q41q42 microdeletion syndrome | (Orphanet:250999) |
ADAMS-OLIVER SYNDROME 1 | (OMIM:100300) |
ADAMS-OLIVER SYNDROME 2 | (OMIM:614219) |
Acro-fronto-facio-nasal dysostosis | (Orphanet:1784) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Adams-Oliver syndrome | (Orphanet:974) |
Aicardi syndrome | (Orphanet:50) |
Anophthalmia plus syndrome | (Orphanet:1104) |
Anophthalmia/microphthalmia - esophageal atresia | (Orphanet:77298) |
Arrhinia - choanal atresia - microphthalmia | (Orphanet:1135) |
Atrioventricular defect - blepharophimosis -radial defects | (Orphanet:1352) |
Autosomal dominant Kenny-Caffey syndrome | (Orphanet:93325) |
Autosomal dominant vitreoretinochoroidopathy | (Orphanet:3086) |
Autosomal recessive chorioretinopathy-microcephaly | (Orphanet:2518) |
BARAITSER-WINTER SYNDROME 2 | (OMIM:614583) |
BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS | (OMIM:610023) |
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA | (OMIM:609945) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Bartsocas-Papas syndrome | (Orphanet:1234) |
Blepharophimosis - epicanthus inversus - ptosis | (Orphanet:126) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
CATARACT 9, MULTIPLE TYPES | (OMIM:604219) |
CEREBROOCULOFACIOSKELETAL SYNDROME 1 | (OMIM:214150) |
CEREBROOCULOFACIOSKELETAL SYNDROME 2 | (OMIM:610756) |
CEREBROOCULOFACIOSKELETAL SYNDROME 4 | (OMIM:610758) |
CHARGE syndrome | (Orphanet:138) |
COCKAYNE SYNDROME B | (OMIM:133540) |
COFS syndrome | (Orphanet:1466) |
CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES | (OMIM:269400) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 | (OMIM:615771) |
Cat-eye syndrome | (Orphanet:195) |
Cockayne syndrome | (Orphanet:191) |
Colobomatous microphthalmia | (Orphanet:98938) |
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome | (Orphanet:363741) |
Congenital blindness due to retinal non-attachment | (Orphanet:300337) |
Congenital primary aphakia | (Orphanet:83461) |
Craniotelencephalic dysplasia | (Orphanet:1528) |
Curry-Jones syndrome | (Orphanet:1553) |
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA | (OMIM:221950) |
Dihydropyrimidine dehydrogenase deficiency | (Orphanet:1675) |
Dubowitz syndrome | (Orphanet:235) |
EXUDATIVE VITREORETINOPATHY 2, X-LINKED | (OMIM:305390) |
Ectodermal dysplasia - blindness | (Orphanet:1806) |
Encephalocraniocutaneous lipomatosis | (Orphanet:2396) |
FACIOTHORACOGENITAL SYNDROME | (OMIM:227320) |
FANCONI ANEMIA, COMPLEMENTATION GROUP A | (OMIM:227650) |
FANCONI ANEMIA, COMPLEMENTATION GROUP C | (OMIM:227645) |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | (OMIM:227646) |
FANCONI ANEMIA, COMPLEMENTATION GROUP E | (OMIM:600901) |
FANCONI ANEMIA, COMPLEMENTATION GROUP G | (OMIM:614082) |
FANCONI ANEMIA, COMPLEMENTATION GROUP J | (OMIM:609054) |
FANCONI ANEMIA, COMPLEMENTATION GROUP L | (OMIM:614083) |
FOVEAL HYPOPLASIA 2 | (OMIM:609218) |
FRONTOFACIONASAL DYSPLASIA | (OMIM:229400) |
Familial vascular leukoencephalopathy | (Orphanet:36383) |
Fanconi anemia | (Orphanet:84) |
Focal dermal hypoplasia | (Orphanet:2092) |
Fronto-facio-nasal dysostosis | (Orphanet:1791) |
Frontonasal dysplasia | (Orphanet:250) |
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | (Orphanet:306542) |
Fryns syndrome | (Orphanet:2059) |
GOMBO SYNDROME | (OMIM:233270) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Goldenhar syndrome | (Orphanet:374) |
Gorlin syndrome | (Orphanet:377) |
Gorlin-Chaudhry-Moss syndrome | (Orphanet:2095) |
HOLOPROSENCEPHALY 2 | (OMIM:157170) |
HOLOPROSENCEPHALY 9 | (OMIM:610829) |
HYDROLETHALUS SYNDROME 1 | (OMIM:236680) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Histiocytoid cardiomyopathy | (Orphanet:137675) |
Holoprosencephaly - postaxial polydactyly | (Orphanet:2166) |
Holoprosencephaly - radial heart renal anomalies | (Orphanet:3186) |
Hydrolethalus | (Orphanet:2189) |
Incontinentia pigmenti | (Orphanet:464) |
Isolated anophthalmia - microphthalmia | (Orphanet:2542) |
Isolated cryptophthalmia | (Orphanet:91396) |
Jacobsen syndrome | (Orphanet:2308) |
Joubert syndrome 14 | (OMIM:614424) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome 22 | (OMIM:615665) |
Kapur-Toriello syndrome | (Orphanet:2328) |
Kenny-Caffey syndrome | (Orphanet:2333) |
Leber congenital amaurosis 10 | (OMIM:611755) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | (OMIM:616171) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 | (OMIM:616335) |
MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA,AND DENTAL ANOMALIES | (OMIM:251700) |
MICROPHTHALMIA, ISOLATED 1 | (OMIM:251600) |
MICROPHTHALMIA, ISOLATED 2 | (OMIM:610093) |
MICROPHTHALMIA, ISOLATED 3 | (OMIM:611038) |
MICROPHTHALMIA, ISOLATED 4 | (OMIM:613094) |
MICROPHTHALMIA, ISOLATED 6 | (OMIM:613517) |
MICROPHTHALMIA, ISOLATED 7 | (OMIM:613704) |
MICROPHTHALMIA, ISOLATED 8 | (OMIM:615113) |
MICROPHTHALMIA, ISOLATED, WITH CATARACT 1 | (OMIM:156850) |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 | (OMIM:610092) |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4 | (OMIM:251505) |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 | (OMIM:611638) |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 | (OMIM:614497) |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 | (OMIM:615145) |
MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA | (OMIM:156900) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
MICROPHTHALMIA, SYNDROMIC 11 | (OMIM:614402) |
MICROPHTHALMIA, SYNDROMIC 12 | (OMIM:615524) |
MICROPHTHALMIA, SYNDROMIC 13 | (OMIM:300915) |
MICROPHTHALMIA, SYNDROMIC 7 | (OMIM:309801) |
MMEP syndrome | (Orphanet:3434) |
MOVED TO 302200 | (OMIM:302300) |
MRCS syndrome | (Orphanet:263347) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 | (OMIM:236670) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11 | (OMIM:615181) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 | (OMIM:615249) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 | (OMIM:613150) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 | (OMIM:253280) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 | (OMIM:253800) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5 | (OMIM:613153) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 | (OMIM:614643) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8 | (OMIM:614830) |
Macrosomia - microphthalmia - cleft palate | (Orphanet:2432) |
Marden-Walker syndrome | (Orphanet:2461) |
Meckel syndrome | (Orphanet:564) |
Meckel syndrome, type 1 | (OMIM:249000) |
Meckel syndrome, type 2 | (OMIM:603194) |
Meckel syndrome, type 4 | (OMIM:611134) |
Meckel syndrome, type 5 | (OMIM:611561) |
Meckel syndrome, type 8 | (OMIM:613885) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Micro syndrome | (Orphanet:2510) |
Microphthalmia - ankyloblepharon - intellectual deficit | (Orphanet:85275) |
Microphthalmia - cataract | (Orphanet:2543) |
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen | (Orphanet:251279) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Microphthalmia with limb anomalies | (Orphanet:1106) |
Moebius syndrome | (Orphanet:570) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Muscle-eye-brain disease | (Orphanet:588) |
Myhre syndrome | (Orphanet:2588) |
NANOPHTHALMOS 2 | (OMIM:609549) |
NANOPHTHALMOS 4 | (OMIM:615972) |
Nance-Horan syndrome | (Orphanet:627) |
Neu-Laxova syndrome | (Orphanet:2671) |
Norrie disease | (Orphanet:649) |
OCULODENTODIGITAL DYSPLASIA | (OMIM:164200) |
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | (OMIM:257850) |
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY | (OMIM:212550) |
Oculo-palato-cerebral syndrome | (Orphanet:2714) |
Oculoauricular syndrome, Schorderet type | (Orphanet:157962) |
Oculocerebrocutaneous syndrome | (Orphanet:1647) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Oculodentodigital dysplasia | (Orphanet:2710) |
Oculofaciocardiodental syndrome | (Orphanet:2712) |
Oculotrichoanal syndrome | (Orphanet:2717) |
Okihiro syndrome | (Orphanet:93293) |
Osteocraniostenosis | (Orphanet:2763) |
Osteoporosis - pseudoglioma | (Orphanet:2788) |
PHACE syndrome | (Orphanet:42775) |
Pallister-Hall syndrome | (Orphanet:672) |
Pelvis-shoulder dysplasia | (Orphanet:2839) |
Pelviscapular dysplasia | (Orphanet:93333) |
ROBERTS SYNDROME | (OMIM:268300) |
Renal coloboma syndrome | (Orphanet:1475) |
Renpenning syndrome | (Orphanet:3242) |
Retinal degeneration - nanophthalmos - glaucoma | (Orphanet:1574) |
Roberts syndrome | (Orphanet:3103) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
SECKEL SYNDROME 2 | (OMIM:606744) |
STEVENSON-CAREY SYNDROME | (OMIM:611961) |
Solitary median maxillary central incisor syndrome | (Orphanet:2286) |
Subaortic stenosis - short stature | (Orphanet:3191) |
Syndromic microphthalmia type 5 | (Orphanet:178364) |
Tetraamelia - multiple malformations | (Orphanet:3301) |
Uveal coloboma - cleft lip and palate - intellectual deficit | (Orphanet:1473) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
WARBURG MICRO SYNDROME 2 | (OMIM:614225) |
WARBURG MICRO SYNDROME 3 | (OMIM:614222) |
WARBURG MICRO SYNDROME 4 | (OMIM:615663) |
Wolfram syndrome 1 | (OMIM:222300) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type | (Orphanet:163966) |
Xeroderma pigmentosum complementation group B | (Orphanet:276252) |
Xeroderma pigmentosum complementation group G | (Orphanet:276267) |