Coffin-Siris syndrome 9

Summary

DOID:0070057 - Coffin-Siris syndrome 9

Disease Ontology Definition:An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2.

Synonyms: autosomal dominant non-syndromic intellectual disability 27, autosomal dominant mental retardation 27, MRD27

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sox11

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014376 - intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism

MONDO:0014376 - intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism

MIM:

MIM:615866 - INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM; IDDMOH

MIM:615866 - INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM; IDDMOH

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant intellectual developmental disorder (is_a), Coffin-Siris syndrome (is_a)