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Ataxia-microcephaly-cataract syndrome

MedGen UID:
167098
•Concept ID:
C0796056
•
Disease or Syndrome
Synonym: AMC SYNDROME
 
Monarch Initiative: MONDO:0008839
OMIM®: 208870

Definition

Ataxia, microcephaly, hypotonia, cataracts, and nystagmus. [from MCA/MR]

Recent clinical studies

Etiology

Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome.
Ziv Y, Frydman M, Lange E, Zelnik N, Rotman G, Julier C, Jaspers NG, Dagan Y, Abeliovicz D, Dar H, Borochowitz Z, Lathrop M, Gatti RA, Shiloh Y
Hum Genet 1992 Mar;88(6):619-26. doi: 10.1007/BF02265285. PMID: 1551665

Diagnosis

Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome.
Ziv Y, Frydman M, Lange E, Zelnik N, Rotman G, Julier C, Jaspers NG, Dagan Y, Abeliovicz D, Dar H, Borochowitz Z, Lathrop M, Gatti RA, Shiloh Y
Hum Genet 1992 Mar;88(6):619-26. doi: 10.1007/BF02265285. PMID: 1551665

Clinical prediction guides

Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome.
Ziv Y, Frydman M, Lange E, Zelnik N, Rotman G, Julier C, Jaspers NG, Dagan Y, Abeliovicz D, Dar H, Borochowitz Z, Lathrop M, Gatti RA, Shiloh Y
Hum Genet 1992 Mar;88(6):619-26. doi: 10.1007/BF02265285. PMID: 1551665

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