Disease #00159 (LNS (Lesch–Nyhan Syndrome), OMIM:300322)

Official abbreviation LNS
Name Lesch–Nyhan Syndrome
OMIM ID 300322
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 4
Phenotype entries for this disease 3
Associated with 1 gene HPRT1
Associated tissues -
Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00000789 Bee C Chen et al.(2014) M Malaysia Malay - - - LNS severe limb spasticity, dystonia and failure to thrive (weight <3rd percentile). A brain MRI had showed bilateral fronto-temporal atrophy. HPRT1 HPRT1 1 1 Nur Aisyah Athirah
00000790 Bee C Chen et al.(2014) F Malaysia Malay - - - LNS Medullary nephrocalcinosis were noted at 2 years of age. She failed to thrive, was globally delayed and had significant dystonia by 3 years 6 months of age HPRT1 HPRT1 1 1 Nur Aisyah Athirah
00000791 Bee C Chen et al.(2014) M Malaysia Malay - - - LNS clearly displayed significant dystonia and limb hypertonicity HPRT1 HPRT1 1 1 Nur Aisyah Athirah
00000792 Bee C Chen et al.(2014) M Malaysia Malay - - - LNS - HPRT1 HPRT1 1 1 Nur Aisyah Athirah
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