Preferred Label : Ataxia-microcephaly-cataract syndrome;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Amc syndrome;
Description : In a highly inbred Arab family with ataxia-telangiectasia of complementation group
A (ATA; 208900), Ziv et al. (1992) found 3 individuals who had ataxia, hypotonia,
microcephaly, and congenital cataracts with nystagmus. Mental retardation was also
observed in 1 of the 3 persons. The one individual appeared to be affected with both
ataxia-telangiectasia and the AMC syndrome. Findings of the AMC syndrome resembled
the Marinesco-Sjogren syndrome (MSS; 248800); however, microcephaly is not part of
MSS, and mental retardation was present in only 1 of the AMC patients. Cataract is
not characteristic of any of the known disorders that simulate ataxia-telangiectasia.
That the AMC syndrome was an entity separate from AT in the Arab family was indicated
by linkage studies. *FIELD* RF 1. Ziv, Y.; Frydman, M.; Lange, E.; Zelnik, N.; Rotman,
G.; Julier, C.; Jaspers, N. G. J.; Dagan, Y.; Abeliovicz, D.; Dar, H.; Borochowitz,
Z.; Lathrop, M.; Gatti, R. A.; Shiloh, Y.: Ataxia-telangiectasia: linkage analysis
in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract
syndrome. Hum. Genet. 88: 619-626, 1992. *FIELD* CS Neuro: Ataxia; Hypotonia; Mental
retardation;
Inheritance : Autosomal recessive;
Prefixed ID : 208870;
Origin ID : 208870;
UMLS CUI : C0796056;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
