TaoMedAI/RareMedData huggingface dataset:
Gene: KCNMA1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Generalized epilepsy-paroxysmal dyskinesia syndrome; GEPD (ORPHA:79137)
Gene: KCNMA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Gene: KCNMA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES (OMIM:617643)
Gene: KCNMA1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES (OMIM:617643)
Gene: KCNMA1
Phenotype: EEG with spike-wave complexes (>3.5 Hz) (HP:0010849)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Gene: KCNMA1
Phenotype: EEG with spike-wave complexes (>3.5 Hz) (HP:0010849)
Associated disease: Generalized epilepsy-paroxysmal dyskinesia syndrome; GEPD (ORPHA:79137)
Gene: KCNMA1
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 (OMIM:618596)
Gene: KCNMA1
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 (OMIM:618596)
Gene: KCNMA1
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Gene: KCNMA1
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: Generalized epilepsy-paroxysmal dyskinesia syndrome; GEPD (ORPHA:79137)
Gene: KCNMA1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Gene: KCNMA1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Gene: KCNMA1
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Generalized epilepsy-paroxysmal dyskinesia syndrome; GEPD (ORPHA:79137)
Gene: KCNMA1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Generalized epilepsy-paroxysmal dyskinesia syndrome; GEPD (ORPHA:79137)
Gene: KCNMA1
Phenotype: Nystagmus (HP:0000639)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Diastema (HP:0000699)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Synophrys (HP:0000664)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Short stature (HP:0004322)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 (OMIM:618596)
Gene: KCNMA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES (OMIM:617643)
Gene: KCNMA1
Phenotype: Childhood onset (HP:0011463)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Gene: KCNMA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 (OMIM:618596)
Gene: KCNMA1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 (OMIM:618596)
Gene: KCNMA1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES (OMIM:617643)
Gene: KCNMA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Myoclonic absence seizure (HP:0011150)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 (OMIM:618596)
Gene: KCNMA1
Phenotype: Strabismus (HP:0000486)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Megalocornea (HP:0000485)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Esotropia (HP:0000565)
Associated disease: Generalized epilepsy-paroxysmal dyskinesia syndrome; GEPD (ORPHA:79137)
Gene: KCNN2
Phenotype: Duane anomaly (HP:0009921)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Panic attack (HP:0025269)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Hypermetric saccades (HP:0007338)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Myoclonus (HP:0001336)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Myoclonus (HP:0001336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Intention tremor (HP:0002080)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Hand tremor (HP:0002378)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Writer's cramp (HP:0002356)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Head tremor (HP:0002346)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Resting tremor (HP:0002322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Amblyopia (HP:0000646)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Motor tics (HP:0100034)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Psychosis (HP:0000709)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Gene: KCNN2
Phenotype: Impaired tandem gait (HP:0031629)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN2
Phenotype: Ptosis (HP:0000508)
Associated disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Gene: KCNN3
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Thickened ears (HP:0009894)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Seizure (HP:0001250)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Thick hair (HP:0100874)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Macroglossia (HP:0000158)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Wide mouth (HP:0000154)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Floppy infant (HP:0008947)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Long thumb (HP:0032524)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Absent distal phalanx of the 2nd toe (HP:0010432)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Facial hypertrichosis (HP:0002219)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Facial hypertrichosis (HP:0002219)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Hypodontia (HP:0000668)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Synophrys (HP:0000664)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Anterior open-bite malocclusion (HP:0009102)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Aplasia of the distal phalanx of the 5th toe (HP:0100380)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Abnormal external genitalia morphology (HP:0000811)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Generalized hypertrichosis (HP:0004554)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Soft skin (HP:0000977)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Absent distal phalanges (HP:0005807)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Kyphosis (HP:0002808)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Overtubulated long bones (HP:0006391)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: High palate (HP:0000218)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: High palate (HP:0000218)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Growth delay (HP:0001510)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Small nail (HP:0001792)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Short neck (HP:0000470)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Pes planus (HP:0001763)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Wide nose (HP:0000445)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Pes cavus (HP:0001761)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Cataract (HP:0000518)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Long hallux (HP:0001847)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Long eyelashes (HP:0000527)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Telecanthus (HP:0000506)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Absent toenail (HP:0001802)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Gene: KCNN3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNN3
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)