TaoMedAI/RareMedData huggingface dataset:
Gene: ALG2
Phenotype: Favorable response of weakness to acetylcholine esterase inhibitors (HP:0030202)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Abnormal peripheral nervous system synaptic transmission (HP:0030191)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Pes planus (HP:0001763)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Pes planus (HP:0001763)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Cataract (HP:0000518)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Cataract (HP:0000518)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Visual impairment (HP:0000505)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Esotropia (HP:0000565)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: MYLK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYLK2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYLK2
Phenotype: Sudden death (HP:0001699)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYLK2
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYLK2
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYLK2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: TUBGCP6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Hypertonia (HP:0001276)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Pachygyria (HP:0001302)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Nystagmus (HP:0000639)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Retinal fold (HP:0008052)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Pointed chin (HP:0000307)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Protruding ear (HP:0000411)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Cataract (HP:0000518)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP6
Phenotype: Visual impairment (HP:0000505)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Gene: TUBGCP6
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DOCK7
Phenotype: Poor speech (HP:0002465)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Prominent ear helix (HP:0009904)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Hypotonia (HP:0001252)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Inability to walk (HP:0002540)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Myoclonus (HP:0001336)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Occipital cortical atrophy (HP:0012105)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Large earlobe (HP:0009748)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Double eyebrow (HP:0010730)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Synophrys (HP:0000664)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Synophrys (HP:0000664)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Autism (HP:0000717)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Abnormal spaced incisors (HP:0040159)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)