TaoMedAI/RareMedData huggingface dataset:
Gene: GLI3
Phenotype: Auricular tag (HP:0030021)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Partial absence of foot (HP:0030032)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Omphalocele (HP:0001539)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Growth delay (HP:0001510)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Growth delay (HP:0001510)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Absent hallux (HP:0012386)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Preductal coarctation of the aorta (HP:0005151)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Sloping forehead (HP:0000340)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: High forehead (HP:0000348)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: High forehead (HP:0000348)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Radial bowing (HP:0002986)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Radial club hand (HP:0004059)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Hypoplasia of the epiglottis (HP:0005349)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Choanal atresia (HP:0000453)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Osteochondroma (HP:0030431)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Foot oligodactyly (HP:0001849)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Broad toe (HP:0001837)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Telecanthus (HP:0000506)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Split foot (HP:0001839)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Ptosis (HP:0000508)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Keratoconus (HP:0000563)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Talipes (HP:0001883)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLRA1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Hypertonia (HP:0001276)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Seizure (HP:0001250)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Ataxia (HP:0001251)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Spasticity (HP:0001257)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Myoclonus (HP:0001336)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Rigidity (HP:0002063)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Apnea (HP:0002104)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Hernia (HP:0100790)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Frequent falls (HP:0002359)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Hypokinesia (HP:0002375)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Esophagitis (HP:0100633)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRA1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA1
Phenotype: Aspiration (HP:0002835)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GLRA2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE (OMIM:301076)
Gene: GLRA2
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE (OMIM:301076)
Gene: GLRA2
Phenotype: Poor suck (HP:0002033)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE (OMIM:301076)
Gene: GLRA2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE (OMIM:301076)
Gene: GLRA2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE (OMIM:301076)
Gene: GLRA2
Phenotype: Inflexible adherence to routines (HP:0000732)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE (OMIM:301076)
Gene: GLRA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE (OMIM:301076)
Gene: GLRA2
Phenotype: Autism (HP:0000717)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE (OMIM:301076)
Gene: GLRA2
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE (OMIM:301076)
Gene: GLRA2
Phenotype: High myopia (HP:0011003)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE (OMIM:301076)
Gene: GLRA2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE (OMIM:301076)
Gene: GLRB
Phenotype: Hypertonia (HP:0001276)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Hypertonia (HP:0001276)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Ataxia (HP:0001251)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Spasticity (HP:0001257)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)