Developmental hereditary disorder	Intellectual disability	Multiple malformation syndrome with facial defects as major feature	X-linked recessive hereditary disease
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X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations (disorder)
	X-linked intellectual disability due to GRIA3 mutations
	X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations
	A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene.
	X-gebonden verstandelijke handicap door GRIA3-mutaties
	X-gebonden verstandelijke beperking door mutaties van ionotrope glutamaatreceptor AMPA-type subeenheid 3 X-gebonden mentale retardatie door GRIA3-mutaties

Id	783702009
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	F72.1
Rule	TRUE
Advice	ALWAYS F72.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified