TaoMedAI/RareMedData huggingface dataset:
Gene: RNU4-2
Phenotype: Sloping forehead (HP:0000340)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: High forehead (HP:0000348)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Micrognathia (HP:0000347)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Hypertelorism (HP:0000316)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Short chin (HP:0000331)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Short philtrum (HP:0000322)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Triangular face (HP:0000325)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Macrotia (HP:0000400)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Astigmatism (HP:0000483)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Strabismus (HP:0000486)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Deeply set eye (HP:0000490)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Anteverted nares (HP:0000463)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Narrow nose (HP:0000460)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Brain atrophy (HP:0012444)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Decreased CSF 5-methyltetrahydrofolate concentration (HP:0012446)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Long neck (HP:0000472)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Short neck (HP:0000470)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Aplasia/Hypoplasia of the cerebral white matter (HP:0012429)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Pes planus (HP:0001763)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Bulbous nose (HP:0000414)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Protruding ear (HP:0000411)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Flat occiput (HP:0005469)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Small pituitary gland (HP:0012506)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Long eyelashes (HP:0000527)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Telecanthus (HP:0000506)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Thin nail (HP:0001816)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Blue sclerae (HP:0000592)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Hypermetropia (HP:0000540)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Pain (HP:0012531)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Myopia (HP:0000545)
Associated disease:  (OMIM:620851)
Gene: OPLAH
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: 5-OXOPROLINASE DEFICIENCY (OMIM:260005)
Gene: OPLAH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 5-OXOPROLINASE DEFICIENCY (OMIM:260005)
Gene: OPLAH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: 5-OXOPROLINASE DEFICIENCY (OMIM:260005)
Gene: OPLAH
Phenotype: Increased level of L-pyroglutamic acid in urine (HP:0410132)
Associated disease: 5-OXOPROLINASE DEFICIENCY (OMIM:260005)
Gene: OPLAH
Phenotype: Abdominal pain (HP:0002027)
Associated disease: 5-OXOPROLINASE DEFICIENCY (OMIM:260005)
Gene: OPLAH
Phenotype: Diarrhea (HP:0002014)
Associated disease: 5-OXOPROLINASE DEFICIENCY (OMIM:260005)
Gene: OPLAH
Phenotype: Vomiting (HP:0002013)
Associated disease: 5-OXOPROLINASE DEFICIENCY (OMIM:260005)
Gene: OPLAH
Phenotype: Enterocolitis (HP:0004387)
Associated disease: 5-OXOPROLINASE DEFICIENCY (OMIM:260005)
Gene: OPLAH
Phenotype: Prolinuria (HP:0003137)
Associated disease: 5-OXOPROLINASE DEFICIENCY (OMIM:260005)
Gene: OPLAH
Phenotype: Reduced circulating 5-oxoprolinase activity (HP:0040142)
Associated disease: 5-OXOPROLINASE DEFICIENCY (OMIM:260005)
Gene: NBEA
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Recurrent infections (HP:0002719)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Broad-based gait (HP:0002136)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: NBEA
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Gene: CYFIP2
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
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: CYFIP2
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: CYFIP2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
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: CYFIP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
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: CYFIP2
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: CYFIP2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Gene: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: CYFIP2
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: TPK1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Clonic seizure (HP:0020221)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Seizure (HP:0001250)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Ataxia (HP:0001251)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Dysarthria (HP:0001260)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Spasticity (HP:0001257)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Dystonia (HP:0001332)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Gene: TPK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)