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Metadata
ID DOID:0112020
Name non-syndromic X-linked intellectual disability 103
Definition A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in KLHL15 on chromosome Xp22.11.
https://pubmed.ncbi.nlm.nih.gov/24817631/, https://pubmed.ncbi.nlm.nih.gov/25644381/
Xrefs

OMIM:300982

Synonyms

MRX103 [EXACT]

X-linked mental retardation 103 [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a non-syndromic X-linked intellectual disability

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