TaoMedAI/RareMedData huggingface dataset:
Gene: LPIN2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LPIN2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LPIN2
Phenotype: Weight loss (HP:0001824)
Associated disease: Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome; Majeed syndrome (ORPHA:77297)
Gene: LPIN2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LPIN2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LPIN2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SDC3
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: OBESITY (OMIM:601665)
Gene: SDC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OBESITY (OMIM:601665)
Gene: SDC3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OBESITY (OMIM:601665)
Gene: SDC3
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: OBESITY (OMIM:601665)
Gene: SDC3
Phenotype: Obesity (HP:0001513)
Associated disease: OBESITY (OMIM:601665)
Gene: SDC3
Phenotype: Decreased resting energy expenditure (HP:0012340)
Associated disease: OBESITY (OMIM:601665)
Gene: TTI1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Facial telangiectasia (HP:0007380)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Waddling gait (HP:0002515)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Impulsivity (HP:0100710)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Paroxysmal bursts of laughter (HP:0000749)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: External tibial torsion (HP:0034373)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Coxa vara (HP:0002812)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Genu varum (HP:0002970)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: TTI1
Phenotype: Esotropia (HP:0000565)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Gene: DEPDC5
Phenotype: Expressive aphasia (HP:0002427)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Sepsis (HP:0100806)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Confusional arousal (HP:0025237)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Somnambulism (HP:0025236)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: NREM parasomnia (HP:0025235)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 (OMIM:604364)
Gene: DEPDC5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 (OMIM:604364)
Gene: DEPDC5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 (OMIM:604364)
Gene: DEPDC5
Phenotype: Interictal EEG abnormality (HP:0025373)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Deja vu aura (HP:0012005)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 (OMIM:604364)
Gene: DEPDC5
Phenotype: Flushing (HP:0031284)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Frontal bossing (HP:0002007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Midface retrusion (HP:0011800)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
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: DEPDC5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Migraine (HP:0002076)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Paresthesia (HP:0003401)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Impulsivity (HP:0100710)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Biventricular hypertrophy (HP:0200128)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 (OMIM:604364)
Gene: DEPDC5
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Focal cortical dysplasia type I (HP:0032047)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 (OMIM:604364)
Gene: DEPDC5
Phenotype: Focal cortical dysplasia type II (HP:0032051)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 (OMIM:604364)
Gene: DEPDC5
Phenotype: Focal cortical dysplasia type IIa (HP:0032052)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 (OMIM:604364)
Gene: DEPDC5
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: DEPDC5
Phenotype: Aphasia (HP:0002381)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 (OMIM:604364)
Gene: DEPDC5
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Amblyopia (HP:0000646)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 (OMIM:604364)
Gene: DEPDC5
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Involuntary movements (HP:0004305)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Third trimester onset (HP:0034197)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Second trimester onset (HP:0034198)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Anxiety (HP:0000739)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Depression (HP:0000716)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 (OMIM:604364)
Gene: DEPDC5
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Atypical behavior (HP:0000708)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Hypertension (HP:0000822)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Pallor (HP:0000980)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)