SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/723676007
http://purl.bioontology.org/ontology/SNOMEDCT/723676007
Preferred Name

Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

Definitions
This syndrome has characteristics of severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in chromosome regions on chromosome 1 and chromosome 14.
Synonyms
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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