ZFIN Human Disease: Tonne-Kalscheuer syndrome

OBO ID: DOID:0112042

Term Name:	Tonne-Kalscheuer syndrome		Search Ontology:
Synonyms:	intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia MRX61 TOKAS X-linked mental retardation 61
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 the RLIM gene on chromosome Xq13.2. (2)
References:	OMIM:300978
Ontology:	Human Disease ( DOID:0112042 )

Relationships

is a type of:	syndromic X-linked intellectual disability syndromic X-linked intellectual disability Show first 5 Terms

OTHER Tonne-Kalscheuer syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RLIM	rlim	Tonne-Kalscheuer syndrome	300978

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None