Preferred Label : Intellectual developmental disorder with keratoconus, febrile seizures, and sinoatrial
block;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Mental retardation, keratoconus, febrile seizures, and sinoatrial block;
Description : Kirby et al. (2005) described 3 nondysmorphic sibs from a consanguineous Pakistani
family who had severe mental retardation, keratoconus resulting in significant vision
failure, and febrile seizures throughout the first few years of life. Two of the sibs
developed sinoatrial heart block, 1 of whom required insertion of a cardiac pacemaker.
Kirby et al. (2005) concluded that this combination of features likely constituted
a previously unrecognized syndrome inherited as an autosomal recessive trait. *FIELD*
RF 1. Kirby, D.; Jackson, A. P.; Karbani, G.; Crow, Y. J.: Mental retardation, keratoconus,
febrile seizures and sinoatrial block: a previously undescribed autosomal recessive
disorder. (Letter) Clin. Genet. 67: 448-449, 2005. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 609438;
Origin ID : 609438;
UMLS CUI : C1836202;
Automatic exact mappings (from CISMeF team)
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
