SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1197059004
http://purl.bioontology.org/ontology/SNOMEDCT/1197059004
Preferred Name

Congenital ichthyosis, microcephalus, tetraplegia syndrome

Definitions
A rare autosomal ichthyosis syndrome with prominent neurologic signs and the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy.
Synonyms
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
Congenital ichthyosis, microcephalus, quadriplegia syndrome
Type http://www.w3.org/2002/07/owl#Class
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