Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.
Begeer JH, Scholte FA, van Essen AJ.
J Med Genet. 1991 Dec;28(12):884-5. doi: 10.1136/jmg.28.12.884.
Marinesco-Sjögren Syndrome.
Anttonen AK.
2006 Nov 29 [updated 2024 Oct 3]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Serine Deficiency Disorders.
van der Crabben SN, de Koning TJ.
2023 Jun 22. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Zellweger Spectrum Disorder.
Steinberg SJ, Raymond GV, Braverman NE, Moser AB.
2003 Dec 12 [updated 2020 Oct 29]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Cerebrotendinous Xanthomatosis.
Patni N, Wilson DP.
2023 Mar 8. In: Feingold KR, Adler RA, Ahmed SF, Anawalt B, Blackman MR, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hamilton E, Hofland J, Jan de Beur S, Kalra S, Kaltsas G, Kapoor N, Kim M, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, Muzumdar R, Purnell J, Rey R, Sahay R, Shah AS, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.
Mitochondriopathies.
Finsterer J.
Eur J Neurol. 2004 Mar;11(3):163-86. doi: 10.1046/j.1351-5101.2003.00728.x.
Huppke-Brendel Syndrome.
Parayil Sankaran B, Chiplunkar S, Vandana VP, Nagappa M, Govindaraj P, Taly AB.
2019 Jun 13 [updated 2025 Apr 3]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Phenotypic Diversity in Stress-induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures: Novel Associations with Parkinsonism, Icthyosis and Cataract.
Nandana J, Fasaludeen A, Kumar AA, Vijayaraghavan A, Nair SS, Cherian A, Menon RN, Sundaram S.
Cerebellum. 2025 Jun 10;24(4):112. doi: 10.1007/s12311-025-01866-3.
CLPB Deficiency.
Wortmann SB, Wevers RA.
2016 Nov 22 [updated 2022 Mar 10]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Rothmund-Thomson syndrome.
Larizza L, Roversi G, Volpi L.
Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2.
