TaoMedAI/RareMedData huggingface dataset:
Gene: IFT140
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: IFT140
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: IFT140
Phenotype: High palate (HP:0000218)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT140
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT140
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT140
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 80 (OMIM:617781)
Gene: IFT140
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT140
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT140
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Polycystic liver disease (HP:0006557)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: IFT140
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IFT140
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT140
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Abnormal systemic arterial morphology (HP:0011004)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: IFT140
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Narrow forehead (HP:0000341)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: IFT140
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT140
Phenotype: High forehead (HP:0000348)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Micromelia (HP:0002983)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT140
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Cholangitis (HP:0030151)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Flank pain (HP:0030157)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: IFT140
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT140
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: IFT140
Phenotype: Persistent head lag (HP:0032988)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT140
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT140
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: IFT140
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT140
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IFT140
Phenotype: Short neck (HP:0000470)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT140
Phenotype: Short foot (HP:0001773)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT140
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IFT140
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT140
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT140
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Cataract (HP:0000518)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IFT140
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT140
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IFT140
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT140
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: RETINITIS PIGMENTOSA 80 (OMIM:617781)
Gene: IFT140
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT140
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT140
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT140
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT140
Phenotype: Short toe (HP:0001831)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Abnormal urinary electrolyte concentration (HP:0012591)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: IFT140
Phenotype: Albuminuria (HP:0012592)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: IFT140
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT140
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IFT140
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT140
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Visual loss (HP:0000572)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IFT140
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT140
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Gene: IFT140
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT140
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT140
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT140
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT140
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IFT140
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT140
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIPOR2
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 104 (OMIM:616515)
Gene: RIPOR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 104 (OMIM:616515)
Gene: RIPOR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 104 (OMIM:616515)
Gene: RIPOR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 21 (OMIM:607017)
Gene: RIPOR2
Phenotype: Middle age onset (HP:0003596)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 21 (OMIM:607017)
Gene: RIPOR2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 21 (OMIM:607017)
Gene: RIPOR2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 104 (OMIM:616515)
Gene: RIPOR2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 21 (OMIM:607017)
Gene: RIPOR2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 21 (OMIM:607017)
Gene: RIPOR2
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 104 (OMIM:616515)
Gene: RIPOR2
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 21 (OMIM:607017)
Gene: RIPOR2
Phenotype: Young adult onset (HP:0011462)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 21 (OMIM:607017)
Gene: RIPOR2
Phenotype: Absent brainstem auditory responses (HP:0004463)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 104 (OMIM:616515)
Gene: RIPOR2
Phenotype: Prelingual sensorineural hearing impairment (HP:0000399)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 104 (OMIM:616515)
Gene: RIPOR2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 21 (OMIM:607017)
Gene: RIPOR2
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 104 (OMIM:616515)
Gene: KMT2B
Phenotype: Poor speech (HP:0002465)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Anarthria (HP:0002425)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Motor delay (HP:0001270)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Dysarthria (HP:0001260)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Spasticity (HP:0001257)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Retrocollis (HP:0002544)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Tremor (HP:0001337)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Myoclonus (HP:0001336)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Wide mouth (HP:0000154)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Recurrent infections (HP:0002719)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Constipation (HP:0002019)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Dysphagia (HP:0002015)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Frontal bossing (HP:0002007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Progressive (HP:0003676)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Narrow palm (HP:0004283)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Nystagmus (HP:0000639)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Nystagmus (HP:0000639)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Broad hallux (HP:0010055)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Short stature (HP:0004322)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Short stature (HP:0004322)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Leg dystonia (HP:0031959)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Arm dystonia (HP:0031960)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Third trimester onset (HP:0034197)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Anxiety (HP:0000739)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Depression (HP:0000716)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Joint contracture of the 5th finger (HP:0009183)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Inverted nipples (HP:0003186)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Globus pallidus hypointensity on susceptibility-weighted imaging (HP:0033049)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Sparse hair (HP:0008070)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Epicanthus (HP:0000286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Retrognathia (HP:0000278)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Full cheeks (HP:0000293)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)