TaoMedAI/RareMedData huggingface dataset:
Gene: ZEB2
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
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: Agenesis of cerebellar vermis (HP:0002335)
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: EEG abnormality (HP:0002353)
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: EEG abnormality (HP:0002353)
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: Headache (HP:0002315)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Iris atrophy (HP:0001089)
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: Periventricular heterotopia (HP:0007165)
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: Periventricular heterotopia (HP:0007165)
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: Low hanging columella (HP:0009765)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Low hanging columella (HP:0009765)
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: Low hanging columella (HP:0009765)
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: Pulmonary artery sling (HP:0004961)
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: Pulmonary artery sling (HP:0004961)
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: Pulmonary artery sling (HP:0004961)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Drooling (HP:0002307)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Duplication of renal pelvis (HP:0005580)
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: Optic atrophy (HP:0000648)
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: Iris coloboma (HP:0000612)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Iris coloboma (HP:0000612)
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: Iris coloboma (HP:0000612)
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 pupil morphology (HP:0000615)
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 hallux (HP:0010055)
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 hallux (HP:0010055)
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 eruption of teeth (HP:0000684)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Delayed eruption of teeth (HP:0000684)
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 eruption of teeth (HP:0000684)
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: Dental crowding (HP:0000678)
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: Dental crowding (HP:0000678)
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: Tooth malposition (HP:0000692)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Tooth malposition (HP:0000692)
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: Tooth malposition (HP:0000692)
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: Widely spaced teeth (HP:0000687)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Right unicoronal synostosis (HP:0011317)
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: Right unicoronal synostosis (HP:0011317)
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 facial shape (HP:0001999)
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 facial shape (HP:0001999)
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 stature (HP:0004322)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Short stature (HP:0004322)
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 stature (HP:0004322)
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: Lateral ventricle dilatation (HP:0006956)
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: Lateral ventricle dilatation (HP:0006956)
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: Decreased circulating immunoglobulin concentration (HP:0004313)
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: Decreased circulating immunoglobulin concentration (HP:0004313)
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: Congenital giant melanocytic nevus (HP:0005600)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Abnormal enteric ganglion morphology (HP:0004362)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Delayed ability to walk (HP:0031936)
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 ability to walk (HP:0031936)
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: Pectus excavatum (HP:0000767)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Pectus excavatum (HP:0000767)
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: Pectus excavatum (HP:0000767)
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: Pectus carinatum (HP:0000768)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Pectus carinatum (HP:0000768)
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: Pectus carinatum (HP:0000768)
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: Motor stereotypy (HP:0000733)
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: Motor stereotypy (HP:0000733)
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 speech and language development (HP:0000750)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Abnormality of the nervous system (HP:0000707)
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: Primary microcephaly (HP:0011451)
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: Primary microcephaly (HP:0011451)
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: Neurodevelopmental delay (HP:0012758)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
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 pulmonary artery (HP:0004414)
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 jaw morphology (HP:0030791)
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: Happy demeanor (HP:0040082)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Happy demeanor (HP:0040082)
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: Happy demeanor (HP:0040082)
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: Abdominal distention (HP:0003270)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Premature thelarche (HP:0010314)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Pruritus (HP:0000989)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Dry skin (HP:0000958)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Anhidrosis (HP:0000970)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Abnormal posterior cranial fossa morphology (HP:0000932)
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 posterior cranial fossa morphology (HP:0000932)
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: Epicanthus (HP:0000286)
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: Hydrocephalus (HP:0000238)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Gingival overgrowth (HP:0000212)
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: Gingival overgrowth (HP:0000212)
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: Genu valgum (HP:0002857)
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: Genu valgum (HP:0002857)
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: Failure to thrive (HP:0001508)
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: Failure to thrive (HP:0001508)
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: Camptodactyly (HP:0012385)
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: Camptodactyly (HP:0012385)
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 eye morphology (HP:0012372)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Cupped ear (HP:0000378)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Abnormal dental morphology (HP:0006482)
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)