Disease #00157 (Sandhoff Disease, OMIM:268800)

Official abbreviation -
Name Sandhoff Disease
OMIM ID 268800
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene HEXB
Associated tissues -
Disease features -
Remarks -


Individuals

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00000787 Chermaine D Antony et al.(2017) M Malaysia - - - - Sandhoff Disease 6-month history of psychomotor regression, exaggerated startle reaction to sound, and myoclonic seizures. Neurological examination revealed hypertonia, absent reflexes, and a weak muscle power. Ophthalmological examination showed the presence of bilateral “cherry red spots” in the retina HEXB HEXB 2 1 Nur Aisyah Athirah
00000788 Chermaine D Antony et al.(2017) F Malaysia - - - - Sandhoff Disease Presented at 8 months of age with hand tremors, unsteady gait, uprolling of eyes, and twitching of the mouth. She had regression of her milestones and generalized convulsions; her ophthalmological examination also revealed “cherry red spots”. She died at 17 months of age. HEXB HEXB 2 1 Nur Aisyah Athirah
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