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Disease Ontology Browser
Mowat-Wilson syndrome (DOID:0060485)
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Synonyms: Hirschsprung disease mental retardation syndrome; microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease
Alt IDs: OMIM:235730, MESH:C536990, NCI:C74999, ORDO:2152, UMLS_CUI:C1856113
Definition: A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It has material basis in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.

Disease References using Mouse Models (1)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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