Disease #00128 (DPD (Dihydropyrimidine Dehydrogenase Deficiency), OMIM:274270)

Official abbreviation DPD
Name Dihydropyrimidine Dehydrogenase Deficiency
OMIM ID 274270
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 DPYD
Associated tissues -
Disease features -
Remarks -


Individuals

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00000661 Bee Chin Chen et al.(2014) F Malaysia Malay - - - DPD showed microcephaly but no abnormal body morphology, has spastic diplegia and showed a marked intellectual disability DPYD DPYD 1 1 Nur Aisyah Athirah
00000662 Bee Chin Chen et al.(2014) M Malaysia Malay - - - DPD Brain MRI showed a general cerebral and cerebellar atrophy without atrophy of the pons. The rostrum of the corpus callosum was absent, the anterior part was thin, and the anterior and posterior commissures were absent. There were no heterotopias. A dermoid cyst was noticed in the floor of the left middle cranial fossa. DPYD DPYD 1 1 Nur Aisyah Athirah
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