ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome.

[hirschsprung disease]

Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability , microcephaly , agenesis of the corpus callosum , seizures , congenital heart disease , Hirschsprung disease , short stature , and genitourinary anomalies . We report a 2 -year -10 -month -old white female with this syndrome caused by mutations in the ZEB 2 gene , and in addition a duplication of the 22 q 11 .23 , a previously undocumented occurrence .

Diseases
Validation

Diseases presenting "corpus callosum" symptom

adrenomyeloneuropathy

alexander disease

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

gm1 gangliosidosis

hirschsprung disease

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

krabbe disease

monosomy 21

neonatal adrenoleukodystrophy

oligodontia

proteus syndrome

pyruvate dehydrogenase deficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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