Mowat-Wilson syndrome

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations.

Input patient's signs and symptoms

Narrow down the case reports

Total: 30 (papers)

(per page)

Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (39.0%)	30083364 (6070557)	Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients. Gosso MF, Rohr C, Brun B, Mejico G, Madeira F, Fay F, Klurfan M, Vazquez M. Hum Genome Var. 2018;5:21. [ Show abstract ] [ Hide abstract ]
		Microcephaly
		ZEB2


1 (39.0%)	26012591	Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome. Murray SB, Spangler BB, Helm BM, Vergano SS. Am J Med Genet A. 2015;167A(10):2402-5. [ Show abstract ] [ Hide abstract ]
		Microcephaly
		ZEB2

		Chromosomes, Human, Pair 2 Facies Gene Expression Heterozygote Hirschsprung Disease Homeodomain Proteins Homo sapiens Infant Intellectual Disability Magnetic Resonance Imaging Male Microcephaly Mutation Polymicrogyria Repressor Proteins Zinc Finger E-box Binding Homeobox 2
1 (39.0%)	25028418	ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome. Buraniqi E, Moodley M. J Child Neurol. 2015;30(1):32-6. [ Show abstract ] [ Hide abstract ]
		Microcephaly
		ZEB2

		Brain Child, Preschool Chromosomes, Human, Pair 22 Facies Females Hirschsprung Disease Homeodomain Proteins Homo sapiens Intellectual Disability Magnetic Resonance Imaging Microcephaly Mutation Repressor Proteins Trisomy Zinc Finger E-box Binding Homeobox 2
1 (39.0%)	23466526	ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. Ghoumid J, Drevillon L, Alavi-Naini SM, Bondurand N, Rio M, Briand-Suleau A, Nasser M, Goodwin L, Raymond P, Yanicostas C, Goossens M, Lyonnet S, Mowat D, Amiel J, Soussi-Yanicostas N, Giurgea I. Hum Mol Genet. 2013;22(13):2652-61. [ Show abstract ] [ Hide abstract ]
		Microcephaly
		CDH1 ZEB2
		p\|SUB\|H\|1045\|R;RS#:397515449 p\|SUB\|S\|1071\|P;RS#:397515448 p\|SUB\|Y\|1055\|C rs397515448 rs397515449
		Alleles Amino Acid Sequence Animal Disease Models Animals DNA Facies Females Gene Order Hirschsprung Disease Homeodomain Proteins Homo sapiens Intellectual Disability Male Microcephaly Missense Mutation Molecular Sequence Data Phenotype Protein Binding Repressor Proteins Transcription, Genetic Zebrafish Zinc Finger E-box Binding Homeobox 2 Zinc Fingers
1 (39.0%)	22486326	Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. Ariss M, Natan K, Friedman N, Traboulsi EI. Ophthalmic Genet. 2012;33(3):159-60. [ Show abstract ] [ Hide abstract ]
		Microcephaly
		ZEB2

		Child Choroid Eye Abnormalities Facies Females Hirschsprung Disease Homeodomain Proteins Homo sapiens Intellectual Disability Microcephaly Mutation Optic Nerve Polymerase Chain Reaction Repressor Proteins Retina Zinc Finger E-box Binding Homeobox 2
1 (39.0%)	21893004	[Mowat-Wilson syndrome: a report of three Danish cases]. Nissen KB, Sondergaard C, Thelle T, Moller RS. Ugeskr Laeger. 2011;173(36):2199-200. [ Show abstract ] [ Hide abstract ]
		Microcephaly
		ZEB2

		Child Denmark Facies Females Hirschsprung Disease Homeodomain Proteins Homo sapiens Intellectual Disability Male Microcephaly Repressor Proteins Zinc Finger E-box Binding Homeobox 2
1 (39.0%)	20428734	Mowat-Wilson syndrome: the first two Malaysian cases. Balasubramaniam S, Keng WT, Ngu LH, Michel LG, Irina G. Singapore Med J. 2010;51(3):e54-7. [ Show abstract ] [ Hide abstract ]
		Microcephaly
		ZEB2

		Child Child, Preschool Constipation Epilepsy Females Gene Deletion Hirschsprung Disease Homeodomain Proteins Homo sapiens Malaysia Repressor Proteins Zinc Finger E-box Binding Homeobox 2
1 (39.0%)	17223398	A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features. Hoffer MJ, Hilhorst-Hofstee Y, Knijnenburg J, Hansson KB, Engelberts AC, Laan LA, Bakker E, Rosenberg C. Eur J Med Genet. 2007;50(2):149-54. [ Show abstract ] [ Hide abstract ]
		Microcephaly
		ZEB2

		Chromosome Breakage Chromosome Mapping Chromosomes, Human, Pair 2 DNA Face Females Fluorescent in Situ Hybridization Gene Deletion Gene Rearrangement Homeodomain Proteins Homo sapiens Infant Intellectual Disability Microcephaly Nucleic Acid Amplification Techniques Oligonucleotide Array Sequence Analysis Repressor Proteins Zinc Finger E-box Binding Homeobox 2
1 (39.0%)	16688751	A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V. Am J Med Genet A. 2006;140(11):1223-7. [ Show abstract ] [ Hide abstract ]
		Microcephaly
		ZEB2
		rs1332911302 rs137852983
		Child, Preschool Congenital Foot Deformity Congenital Hand Deformities DNA Mutational Analysis Hirschsprung Disease Homeodomain Proteins Homo sapiens Intellectual Disability Male Microcephaly Missense Mutation Molecular Sequence Data Phenotype Repressor Proteins Syndrome Zinc Finger E-box Binding Homeobox 2
1 (39.0%)	16088920	Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. McGaughran J, Sinnott S, Dastot-Le Moal F, Wilson M, Mowat D, Sutton B, Goossens M. Am J Med Genet A. 2005;137A(3):302-4. [ Show abstract ] [ Hide abstract ]
		Microcephaly
		ZEB2
		rs587776611
		Child, Preschool DNA Mutational Analysis Females Hirschsprung Disease Homeodomain Proteins Homo sapiens Infant, Newborn Intellectual Disability Male Microcephaly Mutation Repressor Proteins Sibling Syndrome Zinc Finger E-box Binding Homeobox 2

Phenotype(s) retrieved from Orphanet

Total: 50

HPO ID	Term	Frequency
HP:0000252	Microcephaly	Very frequent (99-80%)
HP:0000348	High forehead	Very frequent (99-80%)
HP:0000490	Deeply set eye	Very frequent (99-80%)
HP:0000534	Abnormal eyebrow morphology	Very frequent (99-80%)
HP:0002007	Frontal bossing	Very frequent (99-80%)
HP:0008572	External ear malformation	Very frequent (99-80%)
HP:0009748	Large earlobe	Very frequent (99-80%)
HP:0009909	Uplifted earlobe	Very frequent (99-80%)
HP:0000028	Cryptorchidism	Frequent (79-30%)
HP:0000047	Hypospadias	Frequent (79-30%)
HP:0000194	Open mouth	Frequent (79-30%)
HP:0000218	High palate	Frequent (79-30%)
HP:0000232	Everted lower lip vermilion	Frequent (79-30%)
HP:0000286	Epicanthus	Frequent (79-30%)
HP:0000316	Hypertelorism	Frequent (79-30%)
HP:0000358	Posteriorly rotated ears	Frequent (79-30%)
HP:0001182	Tapered finger	Frequent (79-30%)
HP:0001250	Seizures	Frequent (79-30%)
HP:0001252	Muscular hypotonia	Frequent (79-30%)
HP:0002213	Fine hair	Frequent (79-30%)
HP:0002251	Aganglionic megacolon	Frequent (79-30%)
HP:0002564	obsolete Malformation of the heart and great vessels	Frequent (79-30%)
HP:0004322	Short stature	Frequent (79-30%)
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	Frequent (79-30%)
HP:0010761	Broad columella	Frequent (79-30%)
HP:0000048	Bifid scrotum	Occasional (29-5%)
HP:0000076	Vesicoureteral reflux	Occasional (29-5%)
HP:0000086	Ectopic kidney	Occasional (29-5%)
HP:0000126	Hydronephrosis	Occasional (29-5%)
HP:0000175	Cleft palate	Occasional (29-5%)
HP:0000204	Cleft upper lip	Occasional (29-5%)
HP:0000307	Pointed chin	Occasional (29-5%)
HP:0000431	Wide nasal bridge	Occasional (29-5%)
HP:0000486	Strabismus	Occasional (29-5%)
HP:0000568	Microphthalmia	Occasional (29-5%)
HP:0000612	Iris coloboma	Occasional (29-5%)
HP:0000639	Nystagmus	Occasional (29-5%)
HP:0001629	Ventricular septal defect	Occasional (29-5%)
HP:0001636	Tetralogy of Fallot	Occasional (29-5%)
HP:0001643	Patent ductus arteriosus	Occasional (29-5%)
HP:0001822	Hallux valgus	Occasional (29-5%)
HP:0001869	Deep plantar creases	Occasional (29-5%)
HP:0002019	Constipation	Occasional (29-5%)
HP:0002119	Ventriculomegaly	Occasional (29-5%)
HP:0002120	Cerebral cortical atrophy	Occasional (29-5%)
HP:0002558	Supernumerary nipple	Occasional (29-5%)
HP:0006101	Finger syndactyly	Occasional (29-5%)
HP:0007360	Aplasia/Hypoplasia of the cerebellum	Occasional (29-5%)
HP:0010059	Broad hallux phalanx	Occasional (29-5%)
HP:0100490	Camptodactyly of finger	Occasional (29-5%)

Phenotype(s) retrieved from case reports

Total: 13

HPO ID	Term	# of case reports
HP:0000252	Microcephaly	7
HP:0001249	Intellectual disability	7
HP:0001250	Seizures	5
HP:0001263	Global developmental delay	1
HP:0001274	Agenesis of corpus callosum	1
HP:0001396	Cholestasis	1
HP:0001643	Patent ductus arteriosus	1
HP:0001945	Fever	1
HP:0002019	Constipation	1
HP:0004322	Short stature	1
HP:0005912	Biliary atresia	1
HP:0025356	Psychomotor retardation	1
HP:0200012	Short corpus callosum	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID