Preferred Label : Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness;
Obsolete resource : true;
Moved to : 216550;
Description : Megarbane et al. (2001) described a nonconsanguineous Lebanese family in which 2 brothers
had a seemingly distinct syndrome comprising microcephaly, primary cutis verticis
gyrata, progressive retinitis pigmentosa, cataracts, sensorineural hearing loss, and
mental retardation. The brothers were 41 and 53 years of age. In the older brother
the scalp features had appeared 10 years earlier. In the younger brother visual problems
became obvious at age 12 and the auditory problem at age 30. Night blindness had been
noted from age 20. Haplotype analyses excluded the involvement of 4 Usher syndrome
loci: USH2A (176902), USH2B (246905), USH2C (605472), and USH3 (276902). *FIELD* RF
1. Megarbane, A.; Waked, N.; Chouery, E.; Moglabey, Y. B.; Saliba, N.; Mornet, E.;
Serre, J.-L.; Slim, R.: Microcephaly, cutis verticis gyrata of the scalp, retinitis
pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.
Am. J. Med. Genet. 98: 244-249, 2001. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 605685;
Origin ID : 605685;
UMLS CUI : C1854061;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
