Phenotypes for disease #04293

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Birth_Details: birth details individual: gestational age (weeks), premature birth (HP:0001622, <37w); birth weight (in g/SD); birth length (in cm/SD); OFC at birth (in cm/SD)

MotorSkills: development motor skills; age head control (in months), age sitting (without support, in months), age walking (without support, in months); head:7m, sit:10m, walk:24m, delayed gross motor development (HP:0002194), delayed fine motor development (HP:0010862)

Vision/Abnormality: does the individual have vision abnormalities (specify)
All options:

normal = no abnormal vision (-HP:0000504)
abnormal = abnormal vision (HP:0000504)
acuity reduced = reduced visual acuity (HP:0007663)
adjusting luminance changes = difficulty adjusting changes in luminance (HP:0030512)
age = poor visual behavior for age (HP:0025152)
amaurosis fugax = amaurosis fugax (HP:0100576)
binocular vision = abnormal binocular vision (HP:0011514)
blurred vision = blurred vision (HP:0000622)
bradyopsia = bradyopsia (HP:0030511)
color vision = abnormal color vision (HP:0000551)
field defect = visual field defect (HP:0001123)
hemeralopia = hemeralopia (HP:0012047)
impairment = visual impairment (HP:0000505)
loss = visual loss (HP:0000572)
loss nonprogressive = nonprogressive visual loss (HP:0200068)
loss progressive = progressive visual loss (HP:0000529)
loss progressive slow = slow decrease in visual acuity (HP:0007924)
metamorphopsia = metamorphopsia (HP:0012508)
nyctalopia = nyctalopia (HP:0000662)
photophobia = photophobia (HP:0000613)
photopsia = photopsia (HP:0030786)
vitreous floaters = vitreous floaters (HP:0100832)
? = unknown
nr = not reported

Vision/Other: does the individual have other visual problems (specify)?

Hearing/Loss: individual has hearing loss (hearing defect, hearing impairment), please specify
All options:

abnormal = hearing abnormality (HP:0000364)
hearing loss = hearing loss (defect, impairment) (HP:0000365, +)
aminoglycoside-induced = aminoglycoside-induced hearing loss (HP:0011975)
conductive = hearing loss, conductive (HP:0000405)
conductive bilateral = bilateral conductive hearing loss (HP:0008513)
conductive congenital = congenital conductive hearing loss (HP:0008591)
conductive mild = mild conductive hearing loss (HP:0008598)
conductive progressive = progressive conductive hearing loss (HP:0008607)
high frequency = high frequency hearing loss (progressive) (HP:0005101)
high frequency sensorineural = high frequency sensorineural hearing loss (HP:0001757)
low-frequency = low-frequency hearing loss (HP:0008542)
low-frequency sensorineural = low-frequency sensorineural hearing loss (HP:0008573)
mixed = hearing loss, mixed (HP:0000410)
otitis media = otitis media (HP:0000388)
otitis media acute = acute otitis media (HP:0000371)
otitis media chronic = chronic otitis media (HP:0000389)
otitis media recurrent = recurrent otitis media (HP:0000403)
neurosensory mild = mild neurosensory hearing loss (HP:0008587)
progressive = hearing loss, progressive (HP:0001730)
sensorineural = hearing loss, sensorineural (HP:0000407)
sensorineural bilateral = hearing loss, sensorineural, bilateral (HP:0008619)
sensorineural congenital = hearing loss, congenital sensorineural (HP:0008527)
sensorineural childhood onset = childhood onset sensorineural hearing loss (HP:0011474)
sensorineural infantile = infantile sensorineural hearing loss (HP:0008610)
sensorineural late = late sensorineural hearing loss (HP:0008615)
sensorineural moderate = moderate sensorineural hearing loss (HP:0008504)
sensorineural profound = profound sensorineural hearing loss (HP:0011476)
sensorineural severe = severe sensorineural hearing loss (HP:0008625)
sensorineural postlingual = postlingual sensorineural hearing loss (HP:0008596)
sensorineural prelingual = prelingual sensorineural hearing loss (HP:0000399)
sensorineural progressive = hearing loss, progressive sensorineural (HP:0000408)
normal = normal hearing
? = unknown
nr = not reported

Eye/Optic_Disc: optic disc abnormalities (please specify)
All options:

optic disc = normal optic disc appearance
OD optic disc = normal optic disc appearance
OS optic disc = normal optic disc appearance
aplasia ON = optic nerve aplasia (HP:0012521)
hypoplasia ON = optic nerve hypoplasia (HP:0000609)
hypoplasia OD = optic disc hypoplasia (HP:0007766)
septo-optic dysplasia = septo-optic dysplasia (HP:0100842)
increased ratio = increased cup-to-disc ratio (HP:0012796)
OD increased cup-to-disc ratio (HP:0012796)
OD increased cup-to-disc ratio (HP:0012796) 0-0.4
OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7
OD increased cup-to-disc ratio (HP:0012796) 0.8-1
OS increased cup-to-disc ratio (HP:0012796)
OS increased cup-to-disc ratio (HP:0012796) 0-0.4
OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7
OS increased cup-to-disc ratio (HP:0012796) 0.8-1
drusen = optic disc drusen (HP:0012426)
papilledema = papilledema (HP:0001085)
pseudopapilledema = pseudopapilledema (HP:0000538)
diffuse = diffuse optic disc pallor (HP:0012512)
peripapillary = peripapillary atrophy
temporal = temporal optic disc pallor (HP:0012511)
temporal grey = temporal grey pigmentary crescent
OD normal = normal optic disc appearance
OD centrocecal = centrocecal optic disc
OD diffuse = diffuse optic disc pallor (HP:0012512)
OD peripapillary = peripapillary atrophy
OD temporal = temporal optic disc pallor (HP:0012511)
OD temporal grey = temporal grey pigmentary crescent
OS normal = normal optic disc appearance
OS centrocecal = centrocecal optic disc
OS diffuse = diffuse optic disc pallor (HP:0012512)
OS peripapillary = peripapillary atrophy
OS temporal = temporal optic disc pallor (HP:0012511)
OS temporal grey = temporal grey pigmentary crescent
? = unknown

Protein: result from protein staining

Eye/OCT: optical coherence tomography (OCT) measurement thickness mean retinal nerve fiber layer (RNFL) and/or mean ganglion cell layer (GCL) of oculus dexter ganglion cell layer and/or oculus sinister retinal nerve fiber layer measured using specified device
All options:

OD RNFL ? = OD mean RNFL: not known
OD RNFL normal = OD mean RNFL: normal
OD RNFL temporal = OD mean RNFL: thinning only in the temporal quadrant
OD RNFL superior = OD mean RNFL: thinning only in the superior quadrant
OD RNFL inferior = OD mean RNFL: thinning only in the inferior quadrant
OD RNFL nasal = OD mean RNFL: thinning only in the nasal quadrant
OD RNFL two or more = OD mean RNFL: thinning in 2 or more quadrants
OD GCL ? = OD mean GCL: not known
OD GCL normal = OD mean GCL: normal
OD GCL thinner = OD mean GCL: mean average GCL thickness thinner
OS RNFL ? = OS mean RNFL: not known
OS RNFL normal = OS mean RNFL: normal
OS RNFL temporal = OS mean RNFL: thinning only in the temporal quadrant
OS RNFL superior = OS mean RNFL: thinning only in the superior quadrant
OS RNFL inferior = OS mean RNFL: thinning only in the inferior quadrant
OS RNFL nasal = OS mean RNFL: thinning only in the nasal quadrant
OS RNFL two or more = OS mean RNFL: thinning in 2 or more quadrants
OS GCL ? = OS mean GCL: not known
OS GCL normal = OS mean GCL: normal
OS GCL thinner = OS mean GCL: mean average GCL thickness thinner
cirrus = device cirrus
stratus = device stratus
Heidelberg = device Heidelberg
other = device other

Habits: habits of the individual (please specify)
All options:

alcohol: none
alcohol: occasionally
alcohol: 1-7 drinks/week
alcohol: 8-14 drinks/week
alcohol: 15-21 drinks/week
alcohol: >21 drinks/week
tobacco: none
tobacco: occasionally
tobacco: 1-5 packs/year
tobacco: 6-10 packs/year
tobacco: 11-15 packs/year
tobacco: 16-20 packs/year
tobacco: >20 packs/year
? = unknown
nr = not reported

Histology: observations from histological analysis

Brain/Imaging: imaging brain performed (please specifcy), MRI (magnetic resonance imaging), MR-spec (magnetic resonance spectroscopy)
All options:

MRI = brain MRI performed
CT = CT scan performed
normal = no abnormalities MRI brain
basal ganglia abnormality (HP:0002134)
basal ganglia calcification (HP:0002135)
brainstem abnormality (HP:0002363)
cerebellar atrophy (HP:0001272)
cerebellar vermis atrophy (HP:0006855)
cerebral atrophy (HP:0002059)
cerebral atrophy, diffuse (HP:0002506)
cerebral dysmyelination (HP:0007266)
colpocephaly (HP:0030048)
corpus callosum abnormality (HP:001273)
corpus callosum hypoplasia (HP:0002079)
corpus callosum agenesis (HP:0001274)
corpus callosum agenesis partial (HP:0001388)
Dandy-Walker malformation (HP:0001305)
cortical atrophy (HP:0002120)
cortical lesions, posterior
grey matter abnormality
leukodystrophy (HP:0002415)
optic atrophy (HP:0000648)
optic nerve abnormality (HP:0000587)
optic nerve chiasmal lesions
peripheral neuropathy, demyelinating (HP:0007108)
peripheral neuropathy, demyelinating, mild (HP:0007108)
peripheral neuropathy, demyelinating, severe (HP:0007108)
peripheral neuropathy, demyelinating (HP:0007108)
stroke-like lesions
white matter abnormalities (HP:002500)
MRspec = brain magnetic resonance spectroscopy performed
MRspec lactate peak
no = no brain imaging performed
? = unknown
nr = not reported

Vision/Acuity: abnormal visual acuity (specify)
All options:

OD normal = oculus dexter normal visual acuity (-HP:0030532)
OD abnormal = oculus dexter abnormal best corrected visual acuity test (HP:0030534)
OD 0.1 LogMAR = oculus dexter best corrected visual acuity 0.1 LogMAR (HP:0030554)
OD 0.2 LogMAR = oculus dexter best corrected visual acuity 0.2 LogMAR (HP:0030555)
OD 0.3 LogMAR = oculus dexter best corrected visual acuity 0.3 LogMAR (HP:0030556)
OD 0.4 LogMAR = oculus dexter best corrected visual acuity 0.4 LogMAR (HP:0030557)
OD 0.5 LogMAR = oculus dexter best corrected visual acuity 0.5 LogMAR (HP:0030558)
OD 0.6 LogMAR = oculus dexter best corrected visual acuity 0.6 LogMAR (HP:0030559)
OD 0.7 LogMAR = oculus dexter best corrected visual acuity 0.7 LogMAR (HP:0030560)
OD 0.8 LogMAR = oculus dexter best corrected visual acuity 0.8 LogMAR (HP:0030561)
OD 0.9 LogMAR = oculus dexter best corrected visual acuity 0.9 LogMAR (HP:0030562)
OD 1.0 LogMAR = oculus dexter best corrected visual acuity 1.0 LogMAR (HP:0030563)
OD 1.1 LogMAR = oculus dexter best corrected visual acuity 1.1 LogMAR (HP:0030564)
OD 1.2 LogMAR = oculus dexter best corrected visual acuity 1.2 LogMAR (HP:0030565)
OD 1.3 LogMAR = oculus dexter best corrected visual acuity 1.3 LogMAR (HP:0030566)
OD 2.0 LogMAR = oculus dexter best corrected visual acuity 2.0 LogMAR (HP:0030567)
OD 3.0 LogMAR = oculus dexter best corrected visual acuity 3.0 LogMAR (HP:0030568)
OD light perception w/o projection = oculus dexter visual acuity light perception without projection (HP:0030552)
OD no light perception = oculus dexter visual acuity no light perception (HP:0030553)
OD ? = oculus dexter unknown
OS normal = oculus sinister normal visual acuity (-HP:0030532)
OS abnormal = oculus sinister abnormal best corrected visual acuity test (HP:0030534)
OS 0.1 LogMAR = oculus sinister best corrected visual acuity 0.1 LogMAR (HP:0030554)
OS 0.2 LogMAR = oculus sinister best corrected visual acuity 0.2 LogMAR (HP:0030555)
OS 0.3 LogMAR = oculus sinister best corrected visual acuity 0.3 LogMAR (HP:0030556)
OS 0.4 LogMAR = oculus sinister best corrected visual acuity 0.4 LogMAR (HP:0030557)
OS 0.5 LogMAR = oculus sinister best corrected visual acuity 0.5 LogMAR (HP:0030558)
OS 0.6 LogMAR = oculus sinister best corrected visual acuity 0.6 LogMAR (HP:0030559)
OS 0.7 LogMAR = oculus sinister best corrected visual acuity 0.7 LogMAR (HP:0030560)
OS 0.8 LogMAR = oculus sinister best corrected visual acuity 0.8 LogMAR (HP:0030561)
OS 0.9 LogMAR = oculus sinister best corrected visual acuity 0.9 LogMAR (HP:0030562)
OS 1.0 LogMAR = oculus sinister best corrected visual acuity 1.0 LogMAR (HP:0030563)
OS 1.1 LogMAR = oculus sinister best corrected visual acuity 1.1 LogMAR (HP:0030564)
OS 1.2 LogMAR = oculus sinister best corrected visual acuity 1.2 LogMAR (HP:0030565)
OS 1.3 LogMAR = oculus sinister best corrected visual acuity 1.3 LogMAR (HP:0030566)
OS 2.0 LogMAR = oculus sinister best corrected visual acuity 2.0 LogMAR (HP:0030567)
OS 3.0 LogMAR = oculus sinister best corrected visual acuity 3.0 LogMAR (HP:0030568)
OS light perception w/o projection = oculus sinister visual acuity light perception without projection (HP:0030552)
OS no light perception = oculus sinister visual acuity no light perception (HP:0030553)
OS ? = oculus sinister unknown
OD excellent = oculus dexter excellent visual acuity (Log MAR below 0.1)
OD moderate = oculus dexter moderately impaired visual acuity (Log MAR: 0.2-0.1)
OD severe = oculus dexter severely impaired visual acuity (Log MAR: 0.9-0.3)
OD profound = oculus dexter profound visual acuity loss (Log MAR above 0.9)
OS excellent = oculus sinister excellent visual acuity (Log MAR below 0.1)
OS moderate = oculus sinister moderately impaired visual acuity (Log MAR: 0.2-0.1)
OS severe = oculus sinister severely impaired visual acuity (Log MAR: 0.9-0.3)
OS profound = oculus sinister profound visual acuity loss (Log MAR above 0.9)

Vision/Colour: colour vision tested using e.g. Ishihara color vision test, desaturated 15 Hue test or Farnsworth 100 Hue test
All options:

abnormal = abnormal colour vision (HP:0000551)
normal = normal colour vision
deuteranopia = deuteranopia (HP:0011521)
dyschromatopsia = generalised non specific dyschromatopsia (HP:0007641)
protanopia = protanopia (red/green) (HP:0011522)
tritanopia = tritanopia (blue/yellow) (HP:0000552)
OD normal = normal colour vision
OD deuteranopia = deuteranopia (HP:0011521)
OD dyschromatopsia = generalised non specific dyschromatopsia (HP:0007641)
OD protanopia = protanopia (red/green) (HP:0011522)
OD tritanopia = tritanopia (blue/yellow) (HP:0000552)
OS normal = normal colour vision
OS deuteranopia = deuteranopia (HP:0011521)
OS dyschromatopsia = generalised non specific dyschromatopsia (HP:0007641)
OS protanopia = protanopia (red/green) (HP:0011522)
OS tritanopia = tritanopia (blue/yellow) (HP:0000552)
OD ? = OD unknown
OS ? = OD unknown
? = unknown

Vision/Field: visual field defect
All options:

normal = normal visual field
arcuate = arcuate scotoma (HP:0030530)
central = central scotoma (HP:0000603)
centrocecal = centrocecal scotoma (HP:0000576)
paracentral = paracentral scotoma (HP:0030528)
pericentral = pericentral scotoma (HP:0007761)
ring = ring scotoma (HP:0030529)
scintillating = scintillating scotoma (HP:0010822)
? = unknown visual field defect
OD Goldmann = Goldmann type visual field oculus dexter
OD Humphrey = Humphrey/Octopus type automated perimetry oculus dexter
OD above 0 = oculus dexter mean deviation above 0
OD 0 to -4 = oculus dexter mean deviation 0 to -4
OD -4.01 to -12 = oculus dexter mean deviation -4.01 to -12
OD -12.01 to -20 = oculus dexter mean deviation -12.01 to -20
OD below -20 = oculus dexter mean deviation below -20
OD normal = normal oculus dexter
OD centrocecal = centrocecal scotoma (HP:0000576) oculus dexter
OD central = central scotoma (HP:0000603) oculus dexter
OD paracentral = paracentral scotoma (HP:0030528) oculus dexter
OD superotemporal = defect superotemporal visual field oculus dexter
OD undefined = undefined central defect oculus dexter
OS Goldmann = Goldmann type visual field oculus sinister
OS Humphrey = Humphrey/Octopus type automated perimetry oculus sinister
OS above 0 = oculus dexter mean deviation above 0
OS 0 to -4 = oculus dexter mean deviation 0 to -4
OS -4.01 to -12 = oculus dexter mean deviation -4.01 to -12
OS -12.01 to -20 = oculus dexter mean deviation -12.01 to -20
OS below -20 = oculus dexter mean deviation below -20
OS normal = normal oculus sinister
OS centrocecal = centrocecal scotoma (HP:0000576) oculus sinister
OS central = central scotoma (HP:0000603) oculus sinister
OS paracentral = paracentral scotoma (HP:0030528) oculus sinister
OS superotemporal = defect superotemporal visual field oculus sinister
OS undefined = undefined central defect oculus sinister

595 entries on 6 pages. Showing entries 1 - 100.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Birth_Details	MotorSkills	Vision/Abnormality	Vision/Other	Hearing/Loss	Eye/Optic_Disc	Protein	Eye/OCT	Habits	Histology	Brain/Imaging	Vision/Acuity	Vision/Colour	Vision/Field	Owner	Individual ID
0000034038	optic atrophy	-	-	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Johan den Dunnen	00043809
0000052029	Ataxia, Myopathy	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Tonino Ercolino	00072359
0000060409	autosomal dominant optic atrophy	optic atrophy	OPA-1	Isolated (sporadic)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Daniel Trujillano	00080840
0000067587	Optic atrophy, nonsyndromic	-	OPA-7	Unknown	-	51	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Andreas Laner	00088081
0000081896	optic atrophy (according to referring physician no signs of a neuropathy, optic atrophy only phenotype)	optic atrophy	OPA-1	Unknown	-	45y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Andreas Laner	00103965
0000083320	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105424
0000083321	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105425
0000083322	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105426
0000083323	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105427
0000083324	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105428
0000083325	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105429
0000083326	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105430
0000083327	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105431
0000083328	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105432
0000083329	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105433
0000083330	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105434
0000083331	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105435
0000083332	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105436
0000083333	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105437
0000083334	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105438
0000083335	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105439
0000083336	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105440
0000083337	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105441
0000083338	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105442
0000083339	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105443
0000083340	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105444
0000083341	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105445
0000083342	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105446
0000083343	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105447
0000083344	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105448
0000083345	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105449
0000083346	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105450
0000083347	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105451
0000083348	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105452
0000083349	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105453
0000083350	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105454
0000083351	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105455
0000083352	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105456
0000083353	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105457
0000083354	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105458
0000083355	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105459
0000083356	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105460
0000083357	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105461
0000083358	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105462
0000083359	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105463
0000083392	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105496
0000083393	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105497
0000083394	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105498
0000083395	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105499
0000083396	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105500
0000083397	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105501
0000083398	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105502
0000083399	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105503
0000083400	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105504
0000083401	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105505
0000083402	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105506
0000083403	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105507
0000083404	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105508
0000083405	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105509
0000083406	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105510
0000083407	autosomal dominant optic atrophy; this patient most severely affected family member	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105511
0000083408	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105512
0000083409	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105513
0000083410	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105514
0000083411	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105515
0000083412	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105516
0000083413	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105517
0000083414	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105518
0000083415	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105519
0000083416	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105520
0000083417	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105521
0000083418	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105522
0000083419	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105523
0000083420	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105524
0000083421	autosomal dominant optic atrophy	optic atrophy	OPA+	Unknown	-	-	-	-	-	-	-	-	hearing loss	-	-	-	-	-	-	-	-	-	Marc Ferre	00105525
0000083422	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105526
0000083423	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105527
0000083424	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105528
0000083425	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105529
0000083426	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105530
0000083427	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105531
0000083428	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105532
0000083429	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105533
0000083430	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105534
0000083433	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105537
0000083434	autosomal dominant optic atrophy	optic atrophy	OPA-1	Familial	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105538
0000083435	autosomal dominant optic atrophy	optic atrophy	OPA-1	Familial	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105539
0000083436	autosomal dominant optic atrophy	optic atrophy	OPA-1	Familial	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105540
0000083437	autosomal dominant optic atrophy	optic atrophy	OPA-1	Familial	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105541
0000083438	autosomal dominant optic atrophy	optic atrophy	OPA-1	Familial	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105542
0000083439	autosomal dominant optic atrophy	optic atrophy	OPA-1	Familial	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105543
0000083440	autosomal dominant optic atrophy	optic atrophy	OPA-1	Familial	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105544
0000083441	autosomal dominant optic atrophy	optic atrophy	OPA-1	Familial	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105545
0000083442	autosomal dominant optic atrophy	optic atrophy	OPA-1	Familial	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105546
0000083443	autosomal dominant optic atrophy	optic atrophy	OPA-1	Familial	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105547
0000083444	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105548
0000083445	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105549
0000083446	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105550
0000083447	autosomal dominant optic atrophy	optic atrophy	OPA-1	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105551
0000083455	autosomal dominant optic atrophy	optic atrophy	OPA-1	Familial	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Marc Ferre	00105559

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