TaoMedAI/RareMedData huggingface dataset:
Gene: HNRNPK
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Heat intolerance (HP:0002046)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Heat intolerance (HP:0002046)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Open bite (HP:0010807)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Open bite (HP:0010807)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Branchial anomaly (HP:0009794)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Branchial anomaly (HP:0009794)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Oligodontia (HP:0000677)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Antenatal onset (HP:0030674)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Short nose (HP:0003196)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Inverted nipples (HP:0003186)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Inverted nipples (HP:0003186)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Inverted nipples (HP:0003186)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Wide nasal ridge (HP:0012811)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Hypertension (HP:0000822)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Bifid tongue (HP:0010297)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Abnormal four chamber view of the fetal heart (HP:4000105)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Sacral dimple (HP:0000960)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Osteopenia (HP:0000938)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Osteopenia (HP:0000938)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Retrognathia (HP:0000278)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Long face (HP:0000276)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Long face (HP:0000276)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Long face (HP:0000276)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Microcephaly (HP:0000252)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Microcephaly (HP:0000252)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Overgrowth (HP:0001548)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Overgrowth (HP:0001548)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: High palate (HP:0000218)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Lagophthalmos (HP:0030001)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Growth delay (HP:0001510)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Growth delay (HP:0001510)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Fetal pericardial effusion (HP:0025671)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Abnormality of primary teeth (HP:0006481)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Abnormality of primary teeth (HP:0006481)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Narrow forehead (HP:0000341)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Breech presentation (HP:0001623)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)