Autosomal recessive hereditary disorder	Cerebral atrophy	Developmental delay	Developmental hereditary disorder	Epilepsy	Hereditary optic atrophy	Second cranial nerve finding
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Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
	Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
	A rare severe early-onset neurodegenerative encephalopathy with main characteristic developmental delay/regression, epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. This syndrome is caused by biallelic pathogenic variants in TBCD gene (17q25.3), encoding tubulin folding co-factor D (TBCD), one of five co-chaperones required for microtubule assembly dynamics. The pattern of inheritance is autosomal recessive.
	syndroom van vroeg optredende progressieve diffuse hersenatrofie, microcefalie, spierzwakte en opticusatrofie

Id	1172593006
Status	Primitive

Pathological process

Pathological developmental process

Associated morphology	Diffuse atrophy
Finding site	Cerebrum

Associated morphology	Primary atrophy
Finding site	Optic nerve structure

ICD-10 complex map reference set

Target	G31.9
Rule	TRUE
Advice	ALWAYS G31.9 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified