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DOID:0111781 - Waisman syndrome
Disease Ontology 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.
Synonyms: early-onset parkinsonism-intellectual disability syndrome, Laxova-Opitz syndrome
Xenbase Genes
:
rab39b
| MIM:311510 - WAISMAN SYNDROME; WSMN |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a),
X-linked recessive disease (is_a)