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Metadata
ID DOID:0112042
Name Tonne-Kalscheuer syndrome
Definition A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in RLIM on chromosome Xq13.2.
https://pubmed.ncbi.nlm.nih.gov/25735484/, https://pubmed.ncbi.nlm.nih.gov/29728705/
Xrefs

OMIM:300978

Synonyms

intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia [EXACT]

MRX61 [EXACT]

TOKAS [EXACT]

X-linked mental retardation 61 [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

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