TaoMedAI/RareMedData huggingface dataset:
Gene: LZTR1
Phenotype: Meningioma (HP:0002858)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: LZTR1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LZTR1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LZTR1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LZTR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LZTR1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Fetal pleural effusion (HP:0025676)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Thickened helices (HP:0000391)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: LZTR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LZTR1
Phenotype: Tinnitus (HP:0000360)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: LZTR1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LZTR1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: High forehead (HP:0000348)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LZTR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LZTR1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Triangular face (HP:0000325)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LZTR1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Weak voice (HP:0001621)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: LZTR1
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LZTR1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Pointed chin (HP:0000307)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LZTR1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Strabismus (HP:0000486)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Strabismus (HP:0000486)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LZTR1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LZTR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LZTR1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Short neck (HP:0000470)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Short neck (HP:0000470)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Webbed neck (HP:0000465)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Webbed neck (HP:0000465)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LZTR1
Phenotype: Webbed neck (HP:0000465)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Cataract (HP:0000518)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: LZTR1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LZTR1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Proptosis (HP:0000520)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Telecanthus (HP:0000506)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LZTR1
Phenotype: Ptosis (HP:0000508)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LZTR1
Phenotype: Ptosis (HP:0000508)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Ptosis (HP:0000508)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Delayed menarche (HP:0012569)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LZTR1
Phenotype: Pain (HP:0012531)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: LZTR1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLTCL1
Phenotype: Seesaw nystagmus (HP:0012044)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Congenital bilateral hip dislocation (HP:0008780)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Decreased corneal reflex (HP:0008000)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)