Autosomal recessive hereditary disorder
Developmental hereditary disorder
Global developmental delay
Hereditary cerebellar degeneration
Hereditary disorder of musculoskeletal system
Hereditary disorder of the visual system
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
Nystagmus
Osteopenia
Seizure disorder
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Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome (disorder)
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome
GPAA1-related biosynthesis defect
Glycosylphosphatidylinositol anchor attachment 1-related biosynthesis defect
A rare genetic syndromic intellectual disability with characteristics of global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.
Id1217381009
StatusPrimitive
InterpretsOcular motility observable
Finding siteStructure of visual system
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAtrophy
Finding siteCerebellar structure
Associated morphologyOsteopenia
Finding siteBone structure
ICD-10 complex map reference set
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified