TaoMedAI/RareMedData huggingface dataset:
Gene: STK4
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Infantile onset (HP:0003593)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Persistent EBV viremia (HP:0020072)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Verrucae (HP:0200043)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Molluscum contagiosum (HP:0032163)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Disseminated molluscum contagiosum (HP:0032185)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Lymphoproliferative disorder (HP:0005523)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Recurrent fever (HP:0001954)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Childhood onset (HP:0011463)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: AURKA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AURKA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AURKA
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AURKA
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AURKA
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AURKA
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AURKA
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CDKL5
Phenotype: Tapered finger (HP:0001182)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Poor head control (HP:0002421)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Poor head control (HP:0002421)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Bruxism (HP:0003763)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Panic attack (HP:0025269)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Lethargy (HP:0001254)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Seizure (HP:0001250)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Seizure (HP:0001250)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Hypotonia (HP:0001252)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Spasticity (HP:0001257)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Spasticity (HP:0001257)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Inability to walk (HP:0002540)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease:  (ORPHA:697160)
Gene: CDKL5
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Abnormal muscle tone (HP:0003808)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Abnormal muscle tone (HP:0003808)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Pill-rolling tremor (HP:0025387)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Ureterocele (HP:0000070)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Micropenis (HP:0000054)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Dystonia (HP:0001332)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Dystonia (HP:0001332)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Dystonia (HP:0001332)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Tremor (HP:0001337)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Tremor (HP:0001337)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Myoclonus (HP:0001336)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Myoclonus (HP:0001336)
Associated disease:  (ORPHA:697160)
Gene: CDKL5
Phenotype: Pachygyria (HP:0001302)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Scoliosis (HP:0002650)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Cleft palate (HP:0000175)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Floppy infant (HP:0008947)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Coldness (HP:0033850)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Hand apraxia (HP:0032588)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Constipation (HP:0002019)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Constipation (HP:0002019)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Poor suck (HP:0002033)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Deep philtrum (HP:0002002)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Dysphagia (HP:0002015)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Chorea (HP:0002072)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Apnea (HP:0002104)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Apraxia (HP:0002186)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (ORPHA:697160)
Gene: CDKL5
Phenotype: Developmental regression (HP:0002376)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Loss of speech (HP:0002371)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)