TaoMedAI/RareMedData huggingface dataset:
Gene: DACT1
Phenotype: Aplasia/Hypoplasia of the 3rd toe (HP:0010331)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Bifid sternum (HP:0010309)
Associated disease: Craniorachischisis (ORPHA:63260)
Gene: DACT1
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: Craniorachischisis (ORPHA:63260)
Gene: DACT1
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Omphalocele (HP:0001539)
Associated disease: Craniorachischisis (ORPHA:63260)
Gene: DACT1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Cupped ear (HP:0000378)
Associated disease: TOWNES-BROCKS SYNDROME 2 (OMIM:617466)
Gene: DACT1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: TOWNES-BROCKS SYNDROME 2 (OMIM:617466)
Gene: DACT1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Strabismus (HP:0000486)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Pes planus (HP:0001763)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Cataract (HP:0000518)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: ZBTB7A
Phenotype: Motor delay (HP:0001270)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Seizure (HP:0001250)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Hypotonia (HP:0001252)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Typically de novo (HP:0025352)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Increased size of nasopharyngeal adenoids (HP:0040261)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Sleep apnea (HP:0010535)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Congenital onset (HP:0003577)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Dental crowding (HP:0000678)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Overweight (HP:0025502)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Astigmatism (HP:0000483)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: ZBTB7A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Gene: FZR1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
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: FZR1
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: FZR1
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: FZR1
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: FZR1
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: FZR1
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: FZR1
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: FZR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
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: FZR1
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: FZR1
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: FZR1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
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: FZR1
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: FZR1
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
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: FZR1
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: FZR1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
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: FZR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
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: FZR1
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: FZR1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
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: FZR1
Phenotype: Dyspnea (HP:0002094)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
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: FZR1
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: FZR1
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: FZR1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
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: FZR1
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: FZR1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
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: FZR1
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: FZR1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
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: FZR1
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: FZR1
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: FZR1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Gene: FZR1
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: FZR1
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: FZR1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)