Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit

Succinic semialdehyde dehydrogenase deficiency (SSADHD), is a rare autosomal recessive disorder of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid, or GABA. The disorder has been identified in approximately 350 families, with a significant proportion being consanguineous families. The first case was identified in 1981 and published in a Dutch clinical chemistry journal that highlighted a number of neurological conditions such as delayed intellectual, motor, speech, and language as the most common manifestations. [Source: Wikipedia ]

Synonyms
Autosomal recessive spinocerebellar ataxia 12
SCAR12
OrphaNet reference
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit 
May Cause
Cerebellar ataxia
Epilepsy
Intellectual deficit