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Metadata
ID DOID:0111781
Name Waisman syndrome
Definition A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28.
https://www.ncbi.nlm.nih.gov/pubmed/25434005
Xrefs

OMIM:311510

Synonyms

early-onset parkinsonism-intellectual disability syndrome [EXACT]

Laxova-Opitz syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a X-linked recessive disease

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