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Metadata
ID DOID:0112051
Name non-syndromic X-linked intellectual disability 30
Definition A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23.
https://pubmed.ncbi.nlm.nih.gov/10946356/, https://pubmed.ncbi.nlm.nih.gov/9332663/, https://pubmed.ncbi.nlm.nih.gov/9731525/
Xrefs

OMIM:300558

Synonyms

MRX30 [EXACT]

MRX47 [EXACT]

X-linked mental retardation 30 [EXACT]

X-linked mental retardation 30/47 [EXACT]

X-linked mental retardation 47 [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a non-syndromic X-linked intellectual disability

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