TaoMedAI/RareMedData huggingface dataset:
Gene: NPRL2
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 (OMIM:617116)
Gene: NPRL2
Phenotype: Interictal EEG abnormality (HP:0025373)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Deja vu aura (HP:0012005)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 (OMIM:617116)
Gene: NPRL2
Phenotype: Flushing (HP:0031284)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 (OMIM:617116)
Gene: NPRL2
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Pallor (HP:0000980)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL2
Phenotype: Pain (HP:0012531)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: IGF2BP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IGF2BP2
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IGF2BP2
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IGF2BP2
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IGF2BP2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: MTX2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Short femoral neck (HP:0100864)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Death in childhood (HP:0003819)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Proteinuria (HP:0000093)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Decreased fibular diameter (HP:0031107)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Dysplasia of the femoral head (HP:0010575)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Poikiloderma (HP:0001029)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Generalized lipodystrophy (HP:0009064)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Hypodontia (HP:0000668)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Short stature (HP:0004322)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Mitral valve calcification (HP:0004382)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Thin ribs (HP:0000883)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Intra-oral hyperpigmentation (HP:0010284)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Osteopenia (HP:0000938)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Sparse hair (HP:0008070)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: High palate (HP:0000218)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Genu valgum (HP:0002857)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Long philtrum (HP:0000343)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: High forehead (HP:0000348)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Short philtrum (HP:0000322)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Triangular face (HP:0000325)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Sandal gap (HP:0001852)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Proptosis (HP:0000520)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: MTX2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Gene: SPINT2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Renal duplication (HP:0000075)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Anal atresia (HP:0002023)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Corneal erosion (HP:0200020)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Cutis laxa (HP:0000973)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Low-set ears (HP:0000369)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: SPINT2
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Gene: PMVK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POROKERATOSIS 1, MULTIPLE TYPES (OMIM:175800)
Gene: PMVK
Phenotype: Parakeratosis (HP:0001036)
Associated disease: POROKERATOSIS 1, MULTIPLE TYPES (OMIM:175800)
Gene: PMVK
Phenotype: Porokeratosis (HP:0200044)
Associated disease: POROKERATOSIS 1, MULTIPLE TYPES (OMIM:175800)
Gene: PMVK
Phenotype: Porokeratosis (HP:0200044)
Associated disease: Porokeratosis of Mibelli (ORPHA:735)
Gene: PMVK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: POROKERATOSIS 1, MULTIPLE TYPES (OMIM:175800)
Gene: PMVK
Phenotype: Young adult onset (HP:0011462)
Associated disease: POROKERATOSIS 1, MULTIPLE TYPES (OMIM:175800)
Gene: PMVK
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Porokeratosis of Mibelli (ORPHA:735)
Gene: PMVK
Phenotype: Pruritus (HP:0000989)
Associated disease: Porokeratosis of Mibelli (ORPHA:735)
Gene: PMVK
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Porokeratosis of Mibelli (ORPHA:735)
Gene: PMVK
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Porokeratosis of Mibelli (ORPHA:735)
Gene: CELF2
Phenotype: Poor head control (HP:0002421)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Gene: CELF2
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Gene: CELF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Gene: CELF2
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Gene: CELF2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Gene: CELF2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Gene: CELF2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Gene: CELF2
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Tremor (HP:0001337)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Gene: CELF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Gene: CELF2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Gene: CELF2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Delayed ability to crawl (HP:0033128)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Gene: CELF2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Gene: CELF2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CELF2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Gene: CELF2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)