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HPDL

4-hydroxyphenylpyruvate dioxygenase like

gene with protein productOMIM: 6189943 заболевания
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3
Non-specific syndromic intellectual disabilityORPHA:528084
→
Autosomal recessive spastic paraplegia type 83ORPHA:631076
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Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndromeORPHA:641353
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Данные: Orphadata (CC-BY-4.0)