TaoMedAI/RareMedData huggingface dataset:
Gene: IFT88
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PABPN1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Late onset (HP:0003584)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Facial palsy (HP:0010628)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Progressive (HP:0003676)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Angulated muscle fibers (HP:0034045)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Wet voice (HP:6001011)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Myopathy (HP:0003198)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Muscle fiber intranuclear inclusion bodies (HP:0100304)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Progressive ptosis (HP:0007838)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Fatigue (HP:0012378)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Dysphonia (HP:0001618)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Ptosis (HP:0000508)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Gene: PABPN1
Phenotype: Ptosis (HP:0000508)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: PABPN1
Phenotype: Pain (HP:0012531)
Associated disease: OPMD; Oculopharyngeal muscular dystrophy (ORPHA:270)
Gene: GPR68
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 (OMIM:617217)
Gene: GPR68
Phenotype: Enamel hypomineralization (HP:0006285)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 (OMIM:617217)
Gene: GPR68
Phenotype: Anterior open-bite malocclusion (HP:0009102)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 (OMIM:617217)
Gene: GPR68
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 (OMIM:617217)
Gene: AP3B2
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: AP3B2
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: AP3B2
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: AP3B2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
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: AP3B2
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: AP3B2
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: AP3B2
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: AP3B2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
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: AP3B2
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: AP3B2
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: AP3B2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
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: AP3B2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
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: AP3B2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
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: AP3B2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
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: AP3B2
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
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: AP3B2
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: AP3B2
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: AP3B2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
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: AP3B2
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: AP3B2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
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: AP3B2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
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: AP3B2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Proptosis (HP:0000520)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: AP3B2
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AP3B2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Gene: NPRL3
Phenotype: Expressive aphasia (HP:0002427)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 (OMIM:617118)
Gene: NPRL3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)