• Thumbnail for Cataract-microcornea syndrome
    Cataract-microcornea syndrome is a rare genetic syndrome characterized by congenital cataracts and microcornea in the absence of any other systemic anomaly...
    5 KB (350 words) - 22:19, 18 April 2024
  • 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
  • Thumbnail for Nance–Horan syndrome
    Nance–Horan syndrome, also known as X-linked congenital cataracts and microcornea, X-linked cataract–dental syndrome, cataracts-oto-dental syndrome, cataract–dental...
    7 KB (507 words) - 15:31, 13 November 2024
  • 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...
    13 KB (538 words) - 09:46, 18 March 2024
  • characterized by congenital cataract, hypotonia, spastic diplegia, intellectual or developmental disability, microcephaly, microcornea, optic atrophy, and hypogenitalism...
    5 KB (308 words) - 20:22, 29 October 2024
  • Thumbnail for Strømme syndrome
    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...
    936 bytes (141 words) - 07:23, 10 November 2024
  • Thumbnail for Farsightedness
    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
  • Thumbnail for Aniridia
    Mendelian Inheritance in Man (OMIM): 106230 Aniridia, microcornea, and spontaneously reabsorbed cataract Online Mendelian Inheritance in Man (OMIM): 206700...
    9 KB (901 words) - 14:22, 29 August 2024
  • Thumbnail for Persistent fetal vasculature
    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
  • Thumbnail for ABCA3
    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
  • Thumbnail for Dandy–Walker malformation
    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
  • Thumbnail for Solute carrier family 16 member 12
    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
  • Thumbnail for GJA8
    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
  • Thumbnail for RAB3GAP1
    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
  • Thumbnail for Major facilitator superfamily
    "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