Phenotypes for disease #00168 (PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC)), OMIM:612674)

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Diagnosis/Initial: initial diagnosis, before 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

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

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

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

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

Protein: result from protein staining

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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26 entries on 1 page. Showing entries 1 - 26.

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Phenotype ID	Diagnosis/Initial	Inheritance	Age/Examination	Diagnosis/Definite	Age/Diagnosis	Age/Onset	Phenotype/Onset	Phenotype details	Hearing/Loss	Protein	Owner	Individual ID
0000046390	-	Familial, autosomal recessive	24y	-	14y	-	-	pec cavus from childhood, absent tendon reflexes; abnormal neurography and EMG ; 14y-deaf; mild ataxia; brain MR/CT normal; Indifferent plantar response; 20-ies Retinitis Pigmentosa; 15y-cataract;	sensorineural	-	Jacopo Celli	00059898
0000046391	-	Familial, autosomal recessive	20y	-	6y	-	-	4y-pes cavus, absent tendon reflexes; demyelinating polyneuropathy; 6y-sensorineural hearing loss; 2y-gait, limb, speech ataxia; 10y-wheelchair-bound; Cerebellar atrophy (age 3); Extensor plantar response; Retinitis Pigmentosa; cataract;	sensorineural	-	Jacopo Celli	00059899
0000046392	-	Familial, autosomal recessive	6y	-	-	-	-	absent tendon reflexes; sensorineural hearing loss; speech and limb ataxia; Cerebellar atrophy; Indifferent plantar response; no Retinitis Pigmentosa; cataract	sensorineural	-	Jacopo Celli	00059900
0000046393	-	Familial, autosomal recessive	62y	-	>20y<	-	-	38y-pes cavus, sensory loss, absent ankle reflexes; demyelinating polyneuropathy; 20-ies sensorineural hearing loss; no ataxia; brain MR/CT normal; no pyramidal tract signs ; 38y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 28y-cataract	sensorineural	-	Jacopo Celli	00059901
0000046394	-	Familial, autosomal recessive	56y	-	>30y<	-	-	37y-pes cavus from childhood; demyelinating polyneuropathy; 30-ies sensorineural hearing loss; 37y-gait ataxia; brain MR/CT normal; Extensor plantar response at lower limbs; spasticity; hyperreflexia; 37y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 37y-cataract	sensorineural	-	Jacopo Celli	00059902
0000046395	-	Familial, autosomal recessive	46y	-	-	-	-	38y-no pes cavus, sensory loss distally; demyelinating polyneuropathy; childhood sensorineural hearing loss; 43y-gait ataxia, upper limb intention tremor; Cerebellar atrophy; Extensor plantar response at lower limbs; spasticity; hyperreflexia; 46y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 25y-cataract	sensorineural	-	Jacopo Celli	00059903
0000046396	-	Familial, autosomal recessive	54y	-	-	-	-	53y-pes cavus, normal sensibility, reduced tendon reflexes; 20-ies sensorineural hearing loss; no ataxia; no pyramidal tract signs ; 25y-Retinitis Pigmentosa ; ERG flat; 25y-cataract	sensorineural	-	Jacopo Celli	00059904
0000046397	-	Familial, autosomal recessive	58y	-	>20y<	-	-	51y-pes cavus, sensory loss, reduced tendon reflexes; demyelinating/axonal polyneuropathy; 20-ies sensorineural hearing loss; no ataxia; Cerebellar atrophy; Extensor plantar response at lower limbs; 35y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 26y-cataract	sensorineural	-	Jacopo Celli	00059905
0000046398	-	Unknown	36y	-	10y	-	-	pes cavus, normal sensibility, reduced tendon reflexes in lower limbs; demyelinating polyneuropathy; 10y-deaf; ataxia; Atrophy of vermis and medulla oblongata; Extensor plantar response at right side; spasticity; 36y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 32y-cataract	sensorineural	-	Jacopo Celli	00059906
0000046399	-	Unknown	24y	-	>10y<	-	-	pec cavus, hammertoes, reduced tendon reflexes in upper and lower limbs; demyelinating polyneuropathy; late in teens sensorineural hearing loss; no ataxia; Slight ventricular assymmetry.No cerebellar atrophy; Indifferent plantar response; no Retinitis Pigmentosa; ERG normal; 15y-cataract	sensorineural	-	Jacopo Celli	00059907
0000046400	-	Unknown	16y	-	13y	-	-	pes cavus, reduced sensibility, reduced tendon reflexes in upper limbs, absent in lower limbs ; demyelinating polyneuropathy; 13y-sensorineural hearing loss; no ataxia; brain MR/CT normal; no pyramidal tract signs ; no Retinitis Pigmentosa; ERG normal; 16y-cataract (slight)	sensorineural	-	Jacopo Celli	00059908
0000046401	-	Familial, autosomal recessive	10y	-	-	-	-	absent tendon reflexes of lower limbs, normal sensibility; no sensorineural hearing loss; 4-5y-gait ataxia; Vermian atrophy; Extensor plantar response at lower limbs; no Retinitis Pigmentosa; no cataract	sensorineural	-	Jacopo Celli	00059909
0000046402	-	Familial, autosomal recessive	11y	-	-	-	-	absent tendon reflexes, moderate muscle weakness of lower limbs, normal sensibility; no sensorineural hearing loss; 3-4y-limb and gait ataxia, horizontal nystagmus, dysarthria, dysmetria upper and lower limbs; 15m-delayed walking; action and intention tremor ; Cerebellar atrophy; Extensor plantar response at lower limbs; no Retinitis Pigmentosa; no cataract	sensorineural	-	Jacopo Celli	00059910
0000046403	-	Familial, autosomal recessive	26y	-	-	-	-	pes cavus, sensory loss, reduced tendon reflexes at upper limbs/ absent at lower limbs ; severe demyelinating polyneuropathy; deaf; 4–9y-gait and limb ataxia, horizontal nystagmus, moderate dysarthria, dysmetria at upper and lower limbs ; Vermian atrophy; Extensor plantar response at lower limbs; tongue fasciculations; Retinitis Pigmentosa; cataract;	sensorineural	-	Jacopo Celli	00059911
0000046404	-	Familial, autosomal recessive	44y	-	-	-	-	pes cavus, sensory loss, absent tendon reflexes at lower limbs, scoliosis; demyelinating polyneuropathy; sensorineural hearing loss; 7–10y-gait and limb ataxia, cerebellar dysarthria, dysmetria at upper limbs with adiadocokinesia, head titubation ; Vermian atrophy; Extensor plantar response at lower limbs; macroglossia; amblyopia	-	-	Jacopo Celli	00059912
0000046405	-	Familial, autosomal recessive	19y	-	6y	-	-	12y-pes cavus, sensory loss, absent tendon reflexes at upper and lower limbs; no sensorineural hearing loss	sensorineural	-	Jacopo Celli	00059913
0000046406	-	Familial, autosomal recessive	26y	-	-	-	-	pes cavus, sensory loss, absent tendon reflexes; severe demyelinating polyneuropathy on nerve biopsy; 6y-sensorineural hearing loss; 6–12y-gait and limb ataxia; brain MR/CT normal; Indifferent plantar response; no Retinitis Pigmentosa; no cataract;	-	-	Jacopo Celli	00059914
0000046407	-	Familial, autosomal recessive	32y	-	-	-	-	pes cavus, sensory loss and absent tendon reflexes at lower limbs; axonal polyneuropathy; sensorineural hearing loss; 16–20y-gait ataxia, dysarthria, dysmetria at upper limbs; Cerebellar atrophy; Extensor plantar response at lower limbs; decreased visual acuity and amblyopia; no cataract	sensorineural	-	Jacopo Celli	00059915
0000046408	-	Unknown	50y	-	17y	-	-	34y-pes cavus, hammertoes, sensibility slightly reduced; abnormal neurography and EMG ; 17y-sensorineural hearing loss; 18y-dysarthria, gait ataxia, jerky eye movements, tremor in hands; Cerebellar atrophy Increased signal in periventricular white matter.; Flexor plantar response; spasticity; preserved reflexes; 20-ies Retinitis Pigmentosa; 22y-cataract;	sensorineural	-	Jacopo Celli	00059916
0000124160	sensory and motor neuropathy and ataxia	Familial, autosomal recessive	15y	PHARC	36y	15y	28y	bilateral sensorineural deafness (HP 0008619), bilateral congenital cataract (HP 0000519)	progressive	-	Justine Lerat	00151792
0000124192	-	Familial, autosomal recessive	-	-	-	-	-	see paper; ...	-	-	Johan den Dunnen	00151827
0000124193	-	Familial, autosomal recessive	-	-	-	-	-	see paper; ...	-	-	Johan den Dunnen	00151828
0000124194	-	Familial, autosomal recessive	-	-	-	-	-	see paper; ...	-	-	Johan den Dunnen	00001632
0000124195	-	Familial, autosomal recessive	-	-	-	-	-	see paper; ...	-	-	Johan den Dunnen	00151829
0000124196	-	Familial, autosomal recessive	31y	-	-	-	-	see paper; ...	-	-	Johan den Dunnen	00151830
0000155388	-	Familial, autosomal recessive	-	-	-	-	-	-	-	-	Abdussalam Azem	00207577

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