Disease #00155 (PMD (Pelizaeus-Merzbacher Disease), OMIM:312080)

Official abbreviation PMD
Name Pelizaeus-Merzbacher Disease
OMIM ID 312080
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene PLP1
Associated tissues -
Disease features -
Remarks -


Individuals

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00000782 Ahmad Izani Mohd Safian et al.(2021) M Malaysia - - - - PMD the infant was pink, active on handling with severe back arching (opisthotonus) posture and remarkable muscle wasting PLP1 PLP1 1 1 Nur Aisyah Athirah
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