TaoMedAI/RareMedData huggingface dataset:
Gene: ZEB1
Phenotype: Very low visual acuity (HP:0032122)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Increased corneal curvature (HP:0100692)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Amblyopia (HP:0000646)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Photophobia (HP:0000613)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Blurred vision (HP:0000622)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: ZEB1
Phenotype: Abnormal corneal endothelium morphology (HP:0011488)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: ZEB1
Phenotype: Reduced number of corneal endothelial cells (HP:0011491)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Reduced number of corneal endothelial cells (HP:0011491)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: ZEB1
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 (OMIM:613270)
Gene: ZEB1
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: ZEB1
Phenotype: Anterior synechiae of the anterior chamber (HP:0011483)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Eye movement-induced pain (HP:0030857)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: ZEB1
Phenotype: Edema (HP:0000969)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: ZEB1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: ZEB1
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Astigmatism (HP:0000483)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Keratitis (HP:0000491)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 (OMIM:613270)
Gene: ZEB1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Keratoconus (HP:0000563)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (OMIM:609141)
Gene: ZEB1
Phenotype: Visual loss (HP:0000572)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: ZEB1
Phenotype: Esotropia (HP:0000565)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: TCF12
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TCF12
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TCF12
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TCF12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TCF12
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Hypospadias (HP:0000047)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Scoliosis (HP:0002650)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TCF12
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Dyslexia (HP:0010522)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Metacarpal synostosis (HP:0009701)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TCF12
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Diastema (HP:0000699)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Microdontia (HP:0000691)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Anterior plagiocephaly (HP:0011326)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Bicoronal synostosis (HP:0011318)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Bicoronal synostosis (HP:0011318)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Right unicoronal synostosis (HP:0011317)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Left unicoronal synostosis (HP:0011316)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Anxiety (HP:0000739)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Autism (HP:0000717)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Autistic behavior (HP:0000729)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Delayed puberty (HP:0000823)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Osteopenia (HP:0000938)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Kyphosis (HP:0002808)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TCF12
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Agenesis of molar (HP:0011054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TCF12
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Broad forehead (HP:0000337)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TCF12
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TCF12
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Strabismus (HP:0000486)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Gene: TCF12
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF12
Phenotype: Proptosis (HP:0000520)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TCF12
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Hallux valgus (HP:0001822)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Ptosis (HP:0000508)
Associated disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Gene: TCF12
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCF12
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCF20
Phenotype: Tapered finger (HP:0001182)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Motor delay (HP:0001270)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Tall stature (HP:0000098)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Open mouth (HP:0000194)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)