TaoMedAI/RareMedData huggingface dataset:
Gene: HNRNPH2
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Curly hair (HP:0002212)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Developmental regression (HP:0002376)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Low hanging columella (HP:0009765)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Conspicuously happy disposition (HP:0100024)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Exotropia (HP:0000577)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPK
Phenotype: Poor speech (HP:0002465)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Poor speech (HP:0002465)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Poor speech (HP:0002465)
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: Impaired pain sensation (HP:0007328)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Impaired pain sensation (HP:0007328)
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: Dilatation of the renal pelvis (HP:0010946)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Increased nuchal translucency (HP:0010880)
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: Increased nuchal translucency (HP:0010880)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Intellectual disability, severe (HP:0010864)
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: Microtia (HP:0008551)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Bruxism (HP:0003763)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Bruxism (HP:0003763)
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: Agenesis of corpus callosum (HP:0001274)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Agenesis of corpus callosum (HP:0001274)
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: Areflexia (HP:0001284)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Areflexia (HP:0001284)
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: Seizure (HP:0001250)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Hypotonia (HP:0001252)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Hypotonia (HP:0001252)
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: Gastrointestinal dysmotility (HP:0002579)
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: Gastrointestinal dysmotility (HP:0002579)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Gastroparesis (HP:0002578)
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: Gastroparesis (HP:0002578)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Supernumerary nipple (HP:0002558)
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: Episodic vomiting (HP:0002572)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Episodic vomiting (HP:0002572)
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: Inability to walk (HP:0002540)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Inability to walk (HP:0002540)
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: Vesicoureteral reflux (HP:0000076)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Vesicoureteral reflux (HP:0000076)
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: Hip dysplasia (HP:0001385)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Hip dysplasia (HP:0001385)
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: Joint hypermobility (HP:0001382)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Joint hypermobility (HP:0001382)
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: Craniosynostosis (HP:0001363)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Craniosynostosis (HP:0001363)
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: Plagiocephaly (HP:0001357)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Cryptorchidism (HP:0000028)
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: Feeding difficulties in infancy (HP:0008872)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Feeding difficulties in infancy (HP:0008872)
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: Deep palmar crease (HP:0006191)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Muscle weakness (HP:0001324)
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: Absent speech (HP:0001344)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Coxa valga (HP:0002673)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Scoliosis (HP:0002650)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Scoliosis (HP:0002650)
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: Reduced tendon reflexes (HP:0001315)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Reduced tendon reflexes (HP:0001315)
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 root aneurysm (HP:0002616)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Lipomyelomeningocele (HP:0025480)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Open mouth (HP:0000194)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Open mouth (HP:0000194)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Open mouth (HP:0000194)
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 uvula (HP:0000193)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Bifid uvula (HP:0000193)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Bifid uvula (HP:0000193)
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: Macroglossia (HP:0000158)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Macroglossia (HP:0000158)
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: Cleft palate (HP:0000175)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Cleft palate (HP:0000175)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Cleft palate (HP:0000175)
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: Eversion of lateral third of lower eyelids (HP:0007655)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Eversion of lateral third of lower eyelids (HP:0007655)
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, narrow palate (HP:0002705)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: High, narrow palate (HP:0002705)
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: Hydronephrosis (HP:0000126)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Hydronephrosis (HP:0000126)
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: Downturned corners of mouth (HP:0002714)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Downturned corners of mouth (HP:0002714)
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 median tongue furrow (HP:0002711)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Exaggerated median tongue furrow (HP:0002711)
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: Gastroesophageal reflux (HP:0002020)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Constipation (HP:0002019)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Constipation (HP:0002019)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Constipation (HP:0002019)
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: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
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: Syringomyelia (HP:0003396)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)