Phenotypes for disease #05684 (neuropathy, optic (neuropathy, optic))

215 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000210542 - - - Familial, autosomal dominant 25y 25y - - - Khadidja Guehlouz 00275985
0000210546 - - - Familial, autosomal dominant 45y - - - - Khadidja Guehlouz 00275991
0000210547 Amblyopia (HP:0000646); Esodeviation (HP:0020045); Nystagmus (HP:0000639) - - Familial, autosomal dominant 08y - 00y - - Khadidja Guehlouz 00275992
0000210548 Amblyopia (HP:0000646) - - Familial, autosomal dominant 46y - 36y - - Khadidja Guehlouz 00275993
0000210549 - - - Familial, autosomal dominant - - - - - Khadidja Guehlouz 00275994
0000210552 Diabetes insipidus (HP:0000873); Optic atrophy (HP:0000648); Exercise intolerance (HP:0003546) - - Familial, autosomal dominant 38y - 32y - - Khadidja Guehlouz 00275996
0000210616 - - - Familial, autosomal dominant 04y 04y 02y - - Khadidja Guehlouz 00276060
0000210617 Optic atrophy (HP:0000648) - - Familial, autosomal dominant 50y 50y - - - Khadidja Guehlouz 00276061
0000210618 - - - Familial, autosomal dominant 33y 33y - - - Khadidja Guehlouz 00275995
0000210619 - - - Familial, autosomal dominant 16y 11y - - - Khadidja Guehlouz 00276062
0000210620 Macular dystrophy (HP:0007754); Optic atrophy (HP:0000648) - - Familial, autosomal dominant 30y 30y 13y - - Khadidja Guehlouz 00276063
0000210622 Optic atrophy (HP:0000648) - - Familial, autosomal dominant 21y - 09y Blurred vision (HP:0000622) - Khadidja Guehlouz 00276064
0000210665 - - - Familial, autosomal dominant 30y 30y 19y - - Khadidja Guehlouz 00276065
0000210666 - - - Familial, autosomal dominant 29y 25y - - - Khadidja Guehlouz 00276066
0000210672 - - - Familial, autosomal dominant 30y - 03y - - Khadidja Guehlouz 00276072
0000210708 Abnormal retinal morphology on macular OCT (HP:0030612) - - Familial, autosomal dominant 16y 13y - - - Khadidja Guehlouz 00276121
0000210709 Optic atrophy (HP:0000648) - - Familial, autosomal dominant 21y 09y 09y - - Khadidja Guehlouz 00276122
0000210715 High myopia (HP:0011003); Optic atrophy (HP:0000648) - - Familial, autosomal dominant 58y - - - - Khadidja Guehlouz 00276128
0000210720 Optic atrophy (HP:0000648) - - Familial, autosomal dominant 33y 15y - - - Khadidja Guehlouz 00276130
0000210721 - - - Familial, autosomal dominant 50y - 36y - - Khadidja Guehlouz 00276131
0000210722 - - - Familial, autosomal dominant 73y - - - - Khadidja Guehlouz 00276132
0000210723 - - - Familial, autosomal dominant 57y - - - - Khadidja Guehlouz 00276133
0000210725 - - - Familial, autosomal dominant 64y 42y 42y - - Khadidja Guehlouz 00276135
0000210726 Optic atrophy (HP:0000648) - - Familial, autosomal dominant 28y - 03y - - Khadidja Guehlouz 00276136
0000210935 Optic atrophy (HP:0000648) - - Familial, autosomal dominant 28y - - - - Khadidja Guehlouz 00276351
0000210937 Congenital nystagmus (HP:0006934); Exotropia (HP:0000577); Migraine (HP:0002076); Scotoma (HP:0000575); Oculus dexter superonasal scotoma - - Familial, autosomal dominant 29y 26y 26y - - Khadidja Guehlouz 00276352
0000210938 - - - Familial, autosomal dominant 59y - - - - Khadidja Guehlouz 00276354
0000210939 - - - Familial, autosomal dominant 24y - - - - Khadidja Guehlouz 00276355
0000210940 - - - Familial, autosomal dominant 41y - 10y? - - Khadidja Guehlouz 00276356
0000216396 - - - Familial, autosomal dominant 38y - - - - Khadidja Guehlouz 00281820
0000216397 - - - Familial, autosomal dominant 34y - - - - Khadidja Guehlouz 00281821
0000216399 - - - Familial, autosomal dominant 04y - 02y - - Khadidja Guehlouz 00281823
0000220026 - - - Familial, autosomal dominant 56y - - - - Khadidja Guehlouz 00286161
0000220027 - - - Familial, autosomal dominant 33y - 06y - - Khadidja Guehlouz 00286162
0000220034 - - - Familial, autosomal dominant 44y - - - - Khadidja Guehlouz 00286175
0000220036 - - - Familial, autosomal dominant 22y - 02y - - Khadidja Guehlouz 00286177
0000220041 - - - Familial, autosomal dominant 32y - 07y - - Khadidja Guehlouz 00286182
0000220042 Ptosis (HP:0000508) - - Familial, autosomal dominant 25y - 12y - - Khadidja Guehlouz 00286183
0000220043 Glaucoma (HP:0000501) - - Familial, autosomal dominant 61y - - - - Khadidja Guehlouz 00286184
0000220044 - - - Familial, autosomal dominant 41y - - - - Khadidja Guehlouz 00286185
0000220045 Abnormal macular morphology (HP:0001103) - - Familial, autosomal dominant 40y - 07y - - Khadidja Guehlouz 00286188
0000220046 - - - Familial, autosomal dominant 15y - - - - Khadidja Guehlouz 00286190
0000220052 Optic atrophy (HP:0000648) - - Familial, autosomal recessive 53y - 02y - - Khadidja Guehlouz 00286191
0000220053 Cystoid macular degeneration (HP:0008028) - - Familial, autosomal recessive 32y - - - - Khadidja Guehlouz 00286196
0000220906 Abnormal macular morphology (HP:0001103); Mycrocyst - - Familial, autosomal dominant 20y - 03y Progressive visual loss (HP:0000529) - Khadidja Guehlouz 00287171
0000220907 - - - Familial, autosomal dominant 16y - - - - Khadidja Guehlouz 00287172
0000221098 - - - Familial, autosomal dominant 08y - 04y - - Khadidja Guehlouz 00287363
0000221099 Mitral valve prolapse (HP:0001634); Abnormal macular morphology (HP:0001103); Renal cortical microcysts (HP:0004734) - - Familial, autosomal dominant 30y - - - - Khadidja Guehlouz 00287364
0000221101 Increased blood pressure (HP:0032263); Hyperglycemia (HP:0003074); Abdominal obesity (HP:0012743); Abnormal circulating cholesterol concentration (HP:0003107); Metabolic syndrome - - Familial, autosomal dominant 56y 54y - - - Khadidja Guehlouz 00287366
0000221706 - - - Familial, autosomal dominant 26y - 04y - - Khadidja Guehlouz 00287971
0000221707 Optic atrophy (HP:0000648) - - Familial, autosomal dominant 36y - 16y - - Khadidja Guehlouz 00287972
0000221708 - - - Familial, autosomal dominant 71y - 63y - - Khadidja Guehlouz 00287973
0000221709 Macular dystrophy (HP:0007754) - - Familial, autosomal dominant 30y - - - - Khadidja Guehlouz 00287974
0000221710 - - - Familial, autosomal dominant 43y - 14y - - Khadidja Guehlouz 00287975
0000221711 - - - Familial, autosomal dominant - - - - - Khadidja Guehlouz 00287976
0000221712 Optic atrophy (HP:0000648); Seizures (HP:0001250); Memory impairment (HP:0002354) - - Familial, autosomal recessive 30y - 04y - - Khadidja Guehlouz 00287979
0000221713 Optic atrophy (HP:0000648) - - Familial, autosomal dominant 59y - - - - Khadidja Guehlouz 00287980
0000221714 - - - Familial, autosomal recessive - - - - - Khadidja Guehlouz 00287981
0000221715 Nystagmus (HP:0000639); Ataxia (HP:0001251); Abnormal cerebellum morphology (HP:0001317); Peripheral neuropathy (HP:0009830); Dysarthria (HP:0001260) - - Familial, autosomal recessive 61y - 30y - - Khadidja Guehlouz 00287982
0000222581 - - - Familial, autosomal dominant 19y - 15y - - Khadidja Guehlouz 00288886
0000222582 - - - Familial, autosomal recessive - - - - - Khadidja Guehlouz 00288887
0000222583 - - - Familial, autosomal recessive 21y - 11y - - Khadidja Guehlouz 00288888
0000222584 - - - Familial, autosomal recessive 06y - - - - Khadidja Guehlouz 00288889
0000222585 - - - Familial, autosomal recessive 07y - 06y - - Khadidja Guehlouz 00288890
0000222586 Anorexia (HP:0002039); Migraine (HP:0002076) - - Familial, autosomal recessive 36y - 03y - - Khadidja Guehlouz 00288891
0000222588 Optic atrophy (HP:0000648) - - Familial, autosomal dominant 64y - 40y - - Khadidja Guehlouz 00288892
0000222589 - - - Familial, autosomal dominant 52y - - - - Khadidja Guehlouz 00288893
0000222590 Optic atrophy (HP:0000648) - - Familial, autosomal dominant 38y - - - - Khadidja Guehlouz 00288894
0000222591 Amblyopia (HP:0000646); Peripheral neuropathy (HP:0009830); Hypertension (HP:0000822) - - Familial, autosomal recessive 50y - 43y - - Khadidja Guehlouz 00288895
0000222592 Peripheral neuropathy (HP:0009830); Ataxia (HP:0001251); Spastic paraparesis (HP:0002313) - - Familial, autosomal dominant 67y - - - - Khadidja Guehlouz 00288896
0000222593 - - - Familial, autosomal recessive 15y - - - - Khadidja Guehlouz 00288897
0000222594 Amblyopia (HP:0000646) - - Familial, autosomal dominant 09y - 04y - - Khadidja Guehlouz 00288898
0000222595 Retrobulbar optic neuritis (HP:0100654); Scoliosis (HP:0002650) - - Familial, autosomal recessive 45y - 27y - - Khadidja Guehlouz 00288899
0000222652 - - - Familial, autosomal dominant 35y - - - - Khadidja Guehlouz 00289017
0000222653 - - - Familial, autosomal dominant 52y - - - - Khadidja Guehlouz 00289018
0000222654 Hypertension (HP:0000822); Renal insufficiency (HP:0000083) - - Familial, autosomal dominant 62y - - - - Khadidja Guehlouz 00289019
0000222655 - - - Familial, autosomal dominant 65y - 06y - - Khadidja Guehlouz 00289020
0000222656 - - - Familial, autosomal dominant 39y - - - - Khadidja Guehlouz 00289021
0000222657 - - - Familial, autosomal dominant 08y - - - - Khadidja Guehlouz 00289022
0000222658 - - - Familial, autosomal dominant 82y - - - - Khadidja Guehlouz 00289023
0000222659 - - - Familial, autosomal recessive 12y - - - - Khadidja Guehlouz 00289024
0000222660 - - - Familial, autosomal recessive 09y - - - - Khadidja Guehlouz 00289025
0000222661 - - - Familial, autosomal recessive 31y - - - - Khadidja Guehlouz 00289027
0000222662 - - - Familial, autosomal recessive 34y - - - - Khadidja Guehlouz 00289028
0000222663 Optic atrophy (HP:0000648) - - Familial, autosomal dominant 52y - 07y Visual loss (HP:0000572); Optic atrophy (HP:0000648) - Khadidja Guehlouz 00289029
0000222664 - - - Familial, autosomal dominant 47y - - - - Khadidja Guehlouz 00289030
0000222665 - - - Familial, autosomal dominant 60y - - - - Khadidja Guehlouz 00289031
0000222666 - - - Familial, autosomal recessive 38y - - - - Khadidja Guehlouz 00289032
0000222667 - - - Familial, autosomal dominant 34y - - - - Khadidja Guehlouz 00289033
0000222668 - - - Familial, autosomal dominant 41y - - - - Khadidja Guehlouz 00289034
0000222669 - - - Familial, autosomal dominant 63y - - - - Khadidja Guehlouz 00289035
0000222670 Attention deficit (HP:0007018); Cognitive impairment (HP:0100543); Strabismus (HP:0000486) - - Familial, autosomal dominant 15y - - - - Khadidja Guehlouz 00289036
0000222671 - - - Familial, autosomal recessive 11y - - - - Khadidja Guehlouz 00289037
0000222672 - - - Familial, autosomal recessive 47y - - - - Khadidja Guehlouz 00289038
0000235348 Neurodevelopmental delay (HP:0012758); Repetitive compulsive behavior (HP:0008762); Myoclonic seizure (HP:0032794) ; Rigidity (HP:0002063); Postural instability (HP:0002172); Optic atrophy (HP:0000648); Nystagmus (HP:0000639); Visual impairment (HP:0000505); Synophrys (HP:0000664); Abnormal palate morphology (HP:0000174); Finger clinodactyly (HP:0040019); Epicanthus (HP:0000286); Abnormal subarachnoid space morphology (HP:0012703); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Caesarian section (HP:0011410) - - Familial, autosomal dominant 14y - 00y10m? - - Benjamin Billiet 00310033
0000235359 Neurodevelopmental delay (HP:0012758); Repetitive compulsive behavior (HP:0008762); Myoclonic seizure (HP:0032794) ; Rigidity (HP:0002063); Postural instability (HP:0002172); Optic atrophy (HP:0000648); Nystagmus (HP:0000639); Visual impairment (HP:0000505); Synophrys (HP:0000664); Abnormal palate morphology (HP:0000174); Finger clinodactyly (HP:0040019); Dilation of lateral ventricles (HP:0006956); Intraventricular arachnoid cyst (HP:0012488); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Caesarian section (HP:0011410) - - Familial, autosomal dominant 14y - 00y10m - - Benjamin Billiet 00310047
0000235367 Neurodevelopmental delay (HP:0012758); Muscular hypotonia (HP:0001252); Ataxia (HP:0001251); Dehydration (HP:0001944); Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373); Hyperinsulinemia (HP:0000842); Protein-losing enteropathy (HP:0002243); Blindness (HP:0000618); Abnormal aggressive, impulsive or violent behavior (HP:0006919); Hallucinations (HP:0000738); Depressivity (HP:0000716); Delayed puberty (HP:0000823); Carious teeth (HP:0000670); Deep venous thrombosis (HP:0002625); Menorrhagia (HP:0000132); Cholelithiasis (HP:0001081); Optic atrophy (HP:0000648); Abnormality of optic chiasm morphology (HP:0025163); Corpus callosum atrophy (HP:0007371); Pituitary gland cyst (HP:0410278); Deeply set eye (HP:0000490); Malar flattening (HP:0000272); Inverted nipples (HP:0003186); Finger clinodactyly (HP:0040019); Pes planus (HP:0001763); Brisk reflexes (HP:0001348); Failure to thrive (HP:0001508); Caesarian section (HP:0011410); Poor suck (HP:0002033); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Congenital Disorder Of Glycosylation, Type I/iix OMIM:212067 - Isolated (sporadic) 31y - <00y00m28d - - Benjamin Billiet 00310052
0000235409 Intellectual disability, severe (HP:0010864); Cerebral palsy (HP:0100021); Seizure (HP:0001250); Gait imbalance (HP:0002141); Recurrent infections (HP:0002719); Narrow palm (HP:0004283); Narrow foot (HP:0001786); Horizontal nystagmus (HP:0000666); Amblyopia (HP:0000646); Delayed myelination (HP:0012448); Optic nerve dysplasia (HP:0001093); Absent speech (HP:0001344); Short attention span (HP:0000736); Broad-based gait (HP:0002136); Abnormality of pain sensation (HP:0010832); Visual impairment (HP:0000505); Limb joint contracture (HP:0003121); High forehead (HP:0000348); Protruding ear (HP:0000411); Widely spaced teeth (HP:0000687); Abnormality of the distal phalanx of the thumb (HP:0009617); Long fingers (HP:0100807); Sandal gap (HP:0001852); Pes valgus (HP:0008081); Pes planus (HP:0001763); Optic atrophy (HP:0000648) - - Isolated (sporadic) 10y - 00y04m - - Benjamin Billiet 00310097
0000235504 Hyperbilirubinemia (HP:0002904); Recurrent hand flapping (HP:0100023); Toe walking (HP:0040083); Delayed fine motor development (HP:0010862); Muscular hypotonia (HP:0001252); Autistic behavior (HP:0000729); Attention deficit hyperactivity disorder (HP:0007018); Specific learning disability (HP:0001328); EEG with central sharp waves (HP:0011293); Protruding ear (HP:0000411); Micrognathia (HP:0000347); Cupped ear (HP:0000378); Midface retrusion (HP:0011800); Depressed nasal tip (HP:0000437); Thick vermilion border (HP:0012471); Joint hypermobility (HP:0001382); Optic nerve hypoplasia (HP:0000609); Abnormal retinal morphology on macular OCT (HP:0030612); Reduced visual acuity (HP:0007663); Speech articulation difficulties (HP:0009088); Impaired executive functioning (HP:0033051); Impaired use of nonverbal behaviors (HP:0000758); Optic atrophy (HP:0000648) - - Isolated (sporadic) 30y - 02y - - Benjamin Billiet 00310201
0000235506 Neurodevelopmental delay (HP:0012758); Delayed fine motor development (HP:0010862); Intellectual disability, borderline (HP:0006889); Attention deficit hyperactivity disorder (HP:0007018); Protruding ear (HP:0000411); Retrognathia (HP:0000278); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Abnormal retinal morphology on macular OCT (HP:0030612); Reduced visual acuity (HP:0007663); Corpus callosum atrophy (HP:0007371); Caesarian section (HP:0011410) - - Isolated (sporadic) 07y - ? - - Benjamin Billiet 00310203
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »