TaoMedAI/RareMedData huggingface dataset:
Gene: ZEB2
Phenotype: Abnormal dental morphology (HP:0006482)
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: Posteriorly rotated ears (HP:0000358)
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: Posteriorly rotated ears (HP:0000358)
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: Coarctation of aorta (HP:0001680)
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: Coarctation of aorta (HP:0001680)
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: Aortic valve stenosis (HP:0001650)
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: Aortic valve stenosis (HP:0001650)
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: Bicuspid aortic valve (HP:0001647)
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: Bicuspid aortic valve (HP:0001647)
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: Hypertelorism (HP:0000316)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Hypertelorism (HP:0000316)
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: Hypertelorism (HP:0000316)
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: Patent ductus arteriosus (HP:0001643)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Patent ductus arteriosus (HP:0001643)
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: Pulmonic stenosis (HP:0001642)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Pulmonic stenosis (HP:0001642)
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: Pulmonic stenosis (HP:0001642)
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: Short philtrum (HP:0000322)
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: Short philtrum (HP:0000322)
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: Ventricular septal defect (HP:0001629)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Ventricular septal defect (HP:0001629)
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: Abnormal heart morphology (HP:0001627)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Abnormal heart morphology (HP:0001627)
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: Abnormal heart morphology (HP:0001627)
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: Abnormal pulmonary valve morphology (HP:0001641)
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: Abnormal pulmonary valve morphology (HP:0001641)
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: Tetralogy of Fallot (HP:0001636)
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: Tetralogy of Fallot (HP:0001636)
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: Pointed chin (HP:0000307)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Pointed chin (HP:0000307)
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: Pointed chin (HP:0000307)
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: Atrial septal defect (HP:0001631)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Mandibular prognathia (HP:0000303)
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: Mandibular prognathia (HP:0000303)
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: Hypoplastic anterior commissure (HP:0030303)
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: Sensorineural hearing impairment (HP:0000407)
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: Sensorineural hearing impairment (HP:0000407)
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 otitis media (HP:0000403)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Recurrent otitis media (HP:0000403)
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 otitis media (HP:0000403)
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: Prominent nasal tip (HP:0005274)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Astigmatism (HP:0000483)
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: Astigmatism (HP:0000483)
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: Strabismus (HP:0000486)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Strabismus (HP:0000486)
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: Strabismus (HP:0000486)
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: Retinal coloboma (HP:0000480)
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: Retinal coloboma (HP:0000480)
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: Microcornea (HP:0000482)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Microcornea (HP:0000482)
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: Abnormality of the eye (HP:0000478)
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: Downslanted palpebral fissures (HP:0000494)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Deeply set eye (HP:0000490)
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: Deeply set eye (HP:0000490)
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: Concave nasal ridge (HP:0011120)
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: Aplasia/Hypoplasia of the cerebral white matter (HP:0012429)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Cerebral white matter hypoplasia (HP:0012430)
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: Cerebral white matter hypoplasia (HP:0012430)
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: Depressed nasal tip (HP:0000437)
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: Depressed nasal tip (HP:0000437)
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: Pes planus (HP:0001763)
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: Pes planus (HP:0001763)
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: Webbed penis (HP:0030264)
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: Webbed penis (HP:0030264)
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: Convex nasal ridge (HP:0000444)
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: Convex nasal ridge (HP:0000444)
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: Asplenia (HP:0001746)
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: Asplenia (HP:0001746)
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: Wide nasal bridge (HP:0000431)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Wide nasal bridge (HP:0000431)
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: Wide nasal bridge (HP:0000431)
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: Secondary microcephaly (HP:0005484)
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: Secondary microcephaly (HP:0005484)
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: Cataract (HP:0000518)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Cataract (HP:0000518)
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: Cataract (HP:0000518)
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: Calcaneovalgus deformity (HP:0001848)
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: Calcaneovalgus deformity (HP:0001848)
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 hallux (HP:0001847)
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 hallux (HP:0001847)
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: Hallux valgus (HP:0001822)
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: Hallux valgus (HP:0001822)
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: Telecanthus (HP:0000506)
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: Telecanthus (HP:0000506)
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: Ptosis (HP:0000508)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Ptosis (HP:0000508)
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: Ptosis (HP:0000508)
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)