TaoMedAI/RareMedData huggingface dataset:
Gene: PLCB1
Phenotype: Aortopulmonary collateral arteries (HP:0031834)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PLCB1
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PLCB1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PLCB1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease:  (ORPHA:697160)
Gene: PLCB1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PLCB1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PLCB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PLCB1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PLCB1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PLCB1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12 (OMIM:613722)
Gene: PLCB1
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12 (OMIM:613722)
Gene: PLCB1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PLCB1
Phenotype: Infantile spasms (HP:0012469)
Associated disease:  (ORPHA:697160)
Gene: PLCB1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PLCB1
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease:  (ORPHA:697160)
Gene: PLCB1
Phenotype: Visual impairment (HP:0000505)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PACS2
Phenotype: Clonic seizure (HP:0020221)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
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: PACS2
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: PACS2
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: PACS2
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: PACS2
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: PACS2
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: PACS2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
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: PACS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
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: PACS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
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: PACS2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
Phenotype: Wide mouth (HP:0000154)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
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: PACS2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
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: PACS2
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: PACS2
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: PACS2
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: PACS2
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: PACS2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
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: PACS2
Phenotype: Anemia (HP:0001903)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
Phenotype: Synophrys (HP:0000664)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
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: PACS2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
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: PACS2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
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: PACS2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
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: PACS2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
Phenotype: Dextrocardia (HP:0001651)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Astigmatism (HP:0000483)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Strabismus (HP:0000486)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
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: PACS2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
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: PACS2
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: PACS2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
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: PACS2
Phenotype: Myopia (HP:0000545)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: PACS2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Gene: KATNIP
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)
Gene: KATNIP
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Seizure (HP:0001250)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Hypotonia (HP:0001252)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Ataxia (HP:0001251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KATNIP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 26 (OMIM:616784)