TaoMedAI/RareMedData huggingface dataset:
Gene: GINS1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: ZEB2
Phenotype: Adducted thumb (HP:0001181)
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: Adducted thumb (HP:0001181)
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: Septate vagina (HP:0001153)
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: Septate vagina (HP:0001153)
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: Arachnodactyly (HP:0001166)
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: Arachnodactyly (HP:0001166)
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: Syndactyly (HP:0001159)
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: Syndactyly (HP:0001159)
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 hippocampus morphology (HP:0025100)
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 hippocampus morphology (HP:0025100)
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 hippocampus morphology (HP:0025100)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Poor speech (HP:0002465)
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 speech (HP:0002465)
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: Expressive language delay (HP:0002474)
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: Expressive language delay (HP:0002474)
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: Impaired pain sensation (HP:0007328)
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: Impaired pain sensation (HP:0007328)
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: Ectopia pupillae (HP:0009918)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Ectopia pupillae (HP:0009918)
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: Uplifted earlobe (HP:0009909)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Uplifted earlobe (HP:0009909)
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: Uplifted earlobe (HP:0009909)
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: Atypical absence seizure (HP:0007270)
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: Atypical absence seizure (HP:0007270)
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: Intellectual disability, severe (HP:0010864)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Bruxism (HP:0003763)
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: Bruxism (HP:0003763)
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: Nevus (HP:0003764)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Generalized muscle hypertrophy (HP:0003720)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Agenesis of corpus callosum (HP:0001274)
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: Agenesis of corpus callosum (HP:0001274)
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 corpus callosum morphology (HP:0001273)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
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 corpus callosum morphology (HP:0001273)
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 delay (HP:0001270)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Seizure (HP:0001250)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Seizure (HP:0001250)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Seizure (HP:0001250)
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: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
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: Spasticity (HP:0001257)
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: Spasticity (HP:0001257)
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: Supernumerary nipple (HP:0002558)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Episodic vomiting (HP:0002572)
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: Episodic vomiting (HP:0002572)
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-onset seizure (HP:0007359)
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-onset seizure (HP:0007359)
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: Inability to walk (HP:0002540)
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: Inability to walk (HP:0002540)
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: Highly arched eyebrow (HP:0002553)
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: Increased intracranial pressure (HP:0002516)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Cutaneous melanoma (HP:0012056)
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 kidney (HP:0000077)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Vesicoureteral reflux (HP:0000076)
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: Vesicoureteral reflux (HP:0000076)
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 genital system (HP:0000078)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Renal duplication (HP:0000075)
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: Renal duplication (HP:0000075)
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: Flexion contracture (HP:0001371)
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: Flexion contracture (HP:0001371)
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: Chordee (HP:0000041)
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: Chordee (HP:0000041)
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: Micropenis (HP:0000054)
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: Micropenis (HP:0000054)
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 scrotum (HP:0000048)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Bifid scrotum (HP:0000048)
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 scrotum (HP:0000048)
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: Hypospadias (HP:0000047)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Hypospadias (HP:0000047)
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: Hypospadias (HP:0000047)
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: Urinary incontinence (HP:0000020)
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: Urinary incontinence (HP:0000020)
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: Hyperreflexia (HP:0001347)
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: Hydrocele testis (HP:0000034)
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: Hydrocele testis (HP:0000034)
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: Cryptorchidism (HP:0000028)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Cryptorchidism (HP:0000028)
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: Cryptorchidism (HP:0000028)
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: Cryptorchidism (HP:0000028)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ZEB2
Phenotype: Enlarged cerebellum (HP:0012081)
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: Enlarged cerebellum (HP:0012081)
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 hard palate (HP:0410005)
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: Cleft hard palate (HP:0410005)
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: Absent speech (HP:0001344)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Absent speech (HP:0001344)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)