Developmental hereditary disorder
Intellectual disability
X-linked recessive hereditary disease
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X-linked intellectual disability Cantagrel type (disorder)
X-linked intellectual disability Cantagrel type
Characterized by marked neonatal hypotonia, progressive quadriparesis, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, and stereotypic movements of the hands, esotropia and infantile autism. It has been described in two related males, whereas female carriers were unaffected. Pericentric inversion inv(X)(q13;p22) has been identified it results in the absence of the product of the KIAA2022 gene, highly expressed in the brain.
X-gebonden verstandelijke beperking Cantagrel-type
X-gebonden mentale retardatie Cantagrel-type
X-gebonden verstandelijke handicap Cantagrel-type
Id719016007
StatusPrimitive
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified