Cataract-microcornea syndrome is a rare genetic syndrome characterized by congenital cataracts and microcornea in the absence of any other systemic anomaly...
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tunnel syndrome Carpenter syndrome Cat eye syndrome Cataract-microcornea syndrome Catastrophic antiphospholipid syndrome Catel–Manzke syndrome Cauda equina...
42 KB (4,068 words) - 16:56, 1 November 2024
Hutterite type Cataract hypertrichosis mental retardation Cataract mental retardation hypogonadism Cataract microcornea syndrome Cataract microphthalmia...
40 KB (3,657 words) - 03:02, 17 August 2024
Nance–Horan syndrome, also known as X-linked congenital cataracts and microcornea, X-linked cataract–dental syndrome, cataracts-oto-dental syndrome, cataract–dental...
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microphthalmia and cataract syndrome is a rare genetically inherited condition. Acorea or fibrous occlusion of the pupil, microphthalmia and cataracts are present...
1 KB (83 words) - 06:07, 19 October 2024
Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia along with other non-ocular malformations. Syndromic...
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characterized by congenital cataract, hypotonia, spastic diplegia, intellectual or developmental disability, microcephaly, microcornea, optic atrophy, and hypogenitalism...
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iris, cataracts, opacity of the cornea (leukoma), sclerocornea (in which the white of the eye blends into the cornea), a small cornea (microcornea) and...
25 KB (2,717 words) - 18:28, 25 March 2024
Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly...
28 KB (2,469 words) - 04:35, 13 June 2024
CCMC may refer to: Cataract-microcornea syndrome Cebu City Medical Center Central Crisis Management Cell, a secret security committee formed by the Syrian...
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curvature results in 6 diopters of hypermetropia. Cornea is flatter in microcornea and cornea plana. Index: Age related changes in refractive index (cortical...
23 KB (2,171 words) - 19:58, 22 October 2024
Mendelian Inheritance in Man (OMIM): 106230 Aniridia, microcornea, and spontaneously reabsorbed cataract Online Mendelian Inheritance in Man (OMIM): 206700...
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Persistent fetal vasculature (redirect from Persistent Fetal Vascular Syndrome)
described in PFV cases with microcornea, posterior megalolenticonus, persistent fetal vasculature, and coloboma syndrome (MPPC syndrome). FZD4 (Frizzled class...
30 KB (3,573 words) - 11:18, 3 December 2023
programmed cell death. Mutations in ABCA3 are associated to cataract-microcornea syndrome. It is associated with Surfactant metabolism dysfunction type...
8 KB (954 words) - 22:19, 18 April 2024
et al. (April 2008). "Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin...
22 KB (2,729 words) - 13:38, 31 October 2024
Dandy–Walker malformation (redirect from Dandy Walker syndrome)
included cataracts, small eyes (microphthalmia), chorioretinal dysplasia/atrophy, optic nerve dysplasia/atrophy, a small cornea (microcornea) or corneal...
47 KB (5,483 words) - 15:13, 2 March 2024
GJA3 Cataract-microcornea syndrome; 116150; GJA8 CATSHL syndrome; 610474; FGFR3 Caudal duplication anomaly; 607864; AXIN1 Caudal regression syndrome; 600145;...
234 KB (18,877 words) - 06:16, 6 November 2024
transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]. GRCh38:...
3 KB (530 words) - 00:52, 6 March 2022
mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea". Mol. Vis. 12: 190–5. PMID 16604058. Zhang X, Zou T, Liu Y, Qi...
8 KB (893 words) - 09:49, 14 August 2023
SA (1 December 1993). "Autosomal Recesssive Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy, and Hypogenitalism". American...
8 KB (939 words) - 21:30, 3 March 2023
"Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria". American Journal of Human...
52 KB (5,028 words) - 16:45, 9 September 2024