Phenotypes for disease #00616 (PRLTS (Perrault syndrome))

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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 (OMIM abbreviation)

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

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/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

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'
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!=""	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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32 entries on 1 page. Showing entries 1 - 32.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000043004	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Leigh Demain	00056385
0000053282	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Claire Guissart	00073126
0000066676	see paper; profound congenital sensorineural hearing loss, premature ovarian failure, short stature, microcephaly, seizures, moderate learning difficulties, truncal/cerebellar ataxia with signs of lower limb spasticity, ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00087075
0000066677	see paper; hearing loss, primary amenorrhea, hypogonadism, ...	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00087076
0000066678	see paper; profound congenital sensorineural hearing loss, no additional self-reported medical problems; formal evaluation hormone profiles not possible, ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00087077
0000066679	severe deafness, age onset 3y/6y resp., progressive, Amenorrhea II (age onset 22y/33y), no neurological symptoms	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00087079
0000066680	see paper; profound hearing loss, brain atrophy, lower limb spasticity in early childhood, ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00087080
0000066681	no neurological findings, sensory neuronal hearing loss; female only had secondary amenorrhea, gonadal dysgenesis	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00087081
0000066704	see paper; ..., severe deafness, amenorrhea I, ataxia, sensory-motor polyneuropathy, arachnodactyly	-	-	Familial, autosomal recessive	-	-	<03y	-	-	Johan den Dunnen	00087123
0000066705	see paper;, ..., profound deafness, amenorrhea II (onset 25y), no neurological symptoms, hypothyroidism	-	-	Familial, autosomal recessive	-	-	<03y	-	-	Johan den Dunnen	00087124
0000066706	see paper;, ..., profound deafness, amenorrhea II (onset 26y), no neurological symptoms, hypothyroidism	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00087125
0000066707	see paper;, ..., moderate deafness, amenorrhea I, no neurological symptoms, cleft palate	-	-	Familial, autosomal recessive	-	-	<03y	-	-	Johan den Dunnen	00087126
0000217852	-	Perrault syndrome	-	Unknown	-	-	-	-	-	Julia Lopez	00282358
0000217853	-	Perrault syndrome	-	Unknown	-	-	-	-	-	Julia Lopez	00282359
0000217854	-	Perrault syndrome	-	Unknown	-	-	-	-	-	Julia Lopez	00282360
0000217855	-	Perrault syndrome	-	Unknown	-	-	-	-	-	Julia Lopez	00282829
0000217856	-	Perrault syndrome	-	Unknown	-	-	-	-	-	Julia Lopez	00282831
0000217857	-	Perrault syndrome	-	Unknown	-	-	-	-	-	Julia Lopez	00282857
0000217858	-	Perrault syndrome	-	Unknown	-	-	-	-	-	Julia Lopez	00282891
0000217859	-	Perrault syndrome	-	Unknown	-	-	-	-	-	Julia Lopez	00285270
0000217860	-	Perrault syndrome	-	Unknown	-	-	-	-	-	Julia Lopez	00285271
0000217861	-	Perrault syndrome	-	Unknown	-	-	-	-	-	Julia Lopez	00285272
0000274432	see paper; ...	Perrault syndrome	PRLTS2	Familial, autosomal recessive	31y	-	-	-	-	Johan den Dunnen	00380580
0000274433	see paper; ...	Perrault syndrome	PRLTS6	Familial, autosomal recessive	66y	-	-	-	-	Johan den Dunnen	00380581
0000274434	see paper; ..., 4y-sensorineural hearing loss; more severe in high frequencies, slowly progressive; 18y-primary amenorrhea, underdeveloped secondary sexual characteristics, abdominal ultrasound revealed streak ovaries and small uterus, ovary biopsy showed fibrous tissue without primordial follicles	Perrault syndrome	PRLTS6	Familial, autosomal recessive	38y	-	04y	sensorineural hearing loss	-	Johan den Dunnen	00380582
0000274435	see paper; ...	Perrault syndrome	PRLTS6	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00380583
0000282251	sensorineural hearing loss, primary ovarian insufficiency,	Perrault syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00388711
0000347603	see paper; ..., bilateral sensorineural hearing loss; severity profound; 48y-unilateral cochlear implant, previously bilateral hearing aids; primary ovarian insufficiency; primary amenorrhea; no lactic acidosis; no hypoglycemia; MRI brain normal; no epilepsy; no intellectual disability; no renal dysfunction; no retinopathy; no hepatomegaly; no transient liver failure; adult height 148cm	Perrault-syndrome	-	Familial, autosomal recessive	48y	12m	-	-	-	Johan den Dunnen	00459526
0000347604	see paper; ..., bilateral sensorineural hearing loss; severity profound; bilateral hearing aids, 20y-bilateral cochlear implants; primary ovarian insufficiency; primary amenorrhea; childhood lactic acidosis; childhood hypoglycemia; MRI brain normal; no epilepsy; mild intellectual disability; no renal dysfunction; no retinopathy; no hepatomegaly; no transient liver failure	Perrault-syndrome	-	Familial, autosomal recessive	20y	4y	-	-	-	Johan den Dunnen	00459527
0000347605	see paper; ..., bilateral sensorineural hearing loss; primary ovarian insufficiency; primary amenorrhea; mild intellectual disability; no renal dysfunction; no retinopathy; no hepatomegaly; no transient liver failure	Perrault-syndrome	-	Familial, autosomal recessive	19y	-	-	-	-	Johan den Dunnen	00459528
0000347606	see paper; ..., bilateral sensorineural hearing loss; severity profound; hearing aids; 2y-lactic acidosis; no hypoglycemia; MRI brain diffuse leukodystrophy; epilepsy; severe intellectual disability; proximal tubulopathy; retinopathy; hepatomegaly; transient liver failure; 8y-height 107cm	Perrault-syndrome	-	Familial, autosomal recessive	8y	8y	-	-	-	Johan den Dunnen	00459529
0000347607	see paper; ..., lactic acidosis; MRI brain normal; epilepsy; no renal dysfunction; no retinopathy; hepatomegaly; transient liver failure; 6m-height 6 cm	Perrault-syndrome	-	Familial, autosomal recessive	6m	-	-	-	-	Johan den Dunnen	00459530

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Global Variome shared LOVD

C10orf85 (chromosome 10 open reading frame 85)