TaoMedAI/RareMedData huggingface dataset:
Gene: ZEB2
Phenotype: Absent speech (HP:0001344)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Open mouth (HP:0000194)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Open mouth (HP:0000194)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Axenfeld anomaly (HP:0001492)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Axenfeld anomaly (HP:0001492)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Cleft palate (HP:0000175)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Submucous cleft of soft and hard palate (HP:0410031)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Submucous cleft of soft and hard palate (HP:0410031)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Constipation (HP:0002019)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Constipation (HP:0002019)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Constipation (HP:0002019)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Vomiting (HP:0002013)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Focal hypointensity of cerebral white matter on MRI (HP:0040331)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Focal hypointensity of cerebral white matter on MRI (HP:0040331)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Hyphema (HP:0011886)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Long toe (HP:0010511)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Long toe (HP:0010511)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Large earlobe (HP:0009748)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Large basal ganglia (HP:0007048)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Large basal ganglia (HP:0007048)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Large basal ganglia (HP:0007048)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)