Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 10 for "Cone-rod" dystrophy 13
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 12 Genetic Testing Registry: Cone-rod dystrophy 13 Genetic Testing Registry: Cone-rod dystrophy 15 Genetic ... ROD DYSTROPHY 3; CORD3 CONE DYSTROPHY 3; COD3 CONE-ROD DYSTROPHY 13; CORD13 CONE-ROD DYSTROPHY 8; CORD8 CONE-ROD ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. Nearsightedness 
    ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  3. Bardet-Biedl syndrome 
    ... Bedouin population of Kuwait, affecting about 1 in 13,500 newborns. Bardet-Biedl syndrome can result from ... Biedl syndrome. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. doi: 10.1093/ ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  4. TRNT1 deficiency 
    ... Some of these individuals have a condition called retinitis pigmentosa, in which the light-sensing cells of the ... developmental delay (SIFD) and a milder disorder called retinitis pigmentosa with erythrocytic microcytosis (RPEM), each named for its ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  5. Mitochondrial complex V deficiency 
    ... can cause a condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). NARP causes a variety of signs and ... have cognitive impairment and an eye disorder called retinitis pigmentosa that causes vision loss.A condition called Leigh ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  6. Ataxia with vitamin E deficiency 
    ... this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ... T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  7. Mevalonate kinase deficiency 
    ... the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the ... Orphanet J Rare Dis. 2006 Apr 26;1:13. doi: 10.1186/1750-1172-1-13. Citation ...
    https://medlineplus.gov/.../condition/mevalonate-kinase-deficiency - Genetics
  8. Cold-induced sweating syndrome 
    ... Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99( ... 70. doi: 10.1086/513608. Epub 2007 Mar 13. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  9. Pantothenate kinase-associated neurodegeneration 
    ... psychiatric problems.A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) syndrome, which was historically described ...
    https://medlineplus.gov/...enate-kinase-associated-neurodegeneration - Genetics
  10. Saul-Wilson syndrome 
    ... the eyes (blue sclerae). They may also have retinitis pigmentosa, in which breakdown of the light-sensitive layer ( ... 10.1002/ajmg.a.8. Epub 2018 Dec 13. No abstract available. Citation on PubMed
    https://medlineplus.gov/genetics/condition/saul-wilson-syndrome - Genetics