Disease #00130 (SSADHD (Succinic Semialdehyde Dehydrogenase Deficiency), OMIM:271980)

Official abbreviation SSADHD
Name Succinic Semialdehyde Dehydrogenase Deficiency
OMIM ID 271980
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ALDH5A1
Associated tissues -
Disease features -
Remarks -


Individuals

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00000666 Chee Geap Tay et al.(2015) M Malaysia Chinese - - - SSADHD birth weight: 3.1 kg, has multiple seizure types started within 1 month of age, including tonic spasms, hemifocal clonic or tonic seizures, and versive head and eye deviation, axial and truncal hypotonia, generalized hyporeflexia, and global developmental delay. ALDH5A1 ALDH5A1 3 1 Nur Aisyah Athirah
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