Phenotypes for disease #02032 (peroxisomal acyl-CoA (peroxisomal acyl-CoA oxidase deficiency), OMIM:264470)

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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
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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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28 entries on 1 page. Showing entries 1 - 28.

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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
0000347702	see paper; ..., 32m-walk, 34m-regression; 11y-deaf, tube feeding	-	peroxisomal acyl-CoA oxidase deficiency	Familial, autosomal recessive	11y	-	-	-	-	Johan den Dunnen	00459975
0000347703	see paper; ..., 22m-walk with support, speech few words, 26m-regression; 4y-deceased (respiratory problems)	-	peroxisomal acyl-CoA oxidase deficiency	Familial, autosomal recessive	04y	-	-	-	-	Johan den Dunnen	00459976
0000347704	see paper; ..., neonatal mild hypotonia, horizontal nystagmus; 2m-convulsions; 7m-head control, 10m-roll ove, 18m-speech few words, 24m-crawl, not sitting; 28m-regression, severe hypotonia, dysphagia, increased tendon reflexes lower extremities, positive Babinski reflex; 37m-retinal degeneration; no dysmorphic features, no hepatosplenomegaly; 42m-deceased (respiratory failure)	-	peroxisomal acyl-CoA oxidase deficiency	Familial, autosomal recessive	03y06m	-	-	-	-	Johan den Dunnen	00459977
0000347705	see paper; ..., deceased; 2m-psychomotor retardation, severe axial/peripheral muscular hypotonia, poor feeding; MRI brain pachygyria, perisylvian polymicrogyria, cerebral/ cerebellar white matter abnormalities; facial dysmorphism; progressive psychomotor retardation; deafness; retinopathy; peripheral neuropathy; infantile seizures	peroxisomal disorder	peroxisomal acyl-CoA oxidase deficiency	Familial, autosomal recessive	03y06m	-	00y02m	psychomotor retardation	-	Johan den Dunnen	00459978
0000347706	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459979
0000347707	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459980
0000347708	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459981
0000347709	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459982
0000347710	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459983
0000347711	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459984
0000347712	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459985
0000347713	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459986
0000347714	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459987
0000347715	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459988
0000347716	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459989
0000347717	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459990
0000347718	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459991
0000347719	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459992
0000347720	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459993
0000347721	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459994
0000347722	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459995
0000347723	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459996
0000347724	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459997
0000347725	-	peroxisomal acyl-CoA oxidase deficienc	peroxisomal acyl-CoA oxidase deficienc	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00459998
0000347726	see paper;, birth 33w-cesarean section, weight 2,000g, severe generalized hypotonia; 1m-generalized epileptic seizures; 6m-tonic–clonic seizures, myoclonic jerks with emporary remissions; severely delayed, no postural control; 4y-spastic tetraplegia, severe intellectual disability, poor response to visua/auditory stimuli	-	peroxisomal acyl-CoA oxidase deficiency	Familial, autosomal recessive	5.4y	-	-	-	-	Johan den Dunnen	00459999
0000347727	see paper; .., birt at term, weight 3750g, length 54cm, OFC 34cm; neonatal hypotonia, partial seizures; 4m-severe hypotonia, no active posture, decreased tendon reflezes; no craniofacial dysmorphism, psychomotor retardation, no retinopathy/optic atrophy, no white matter demyelination, no impaired hearing; 1y-polymicrogyria;2.6y-walk with support, psychomotor delay, mildly deaf	hypotonia	peroxisomal acyl-CoA oxidase deficiency	Familial, autosomal recessive	2.6y	-	-	-	-	Johan den Dunnen	00460000
0000347732	see paper; ..., mild language disorder; white matter abnormalities; 6y2m-seizures; dysmorphism; 5y10m regression	-	peroxisomal acyl-CoA oxidase deficiency	Familial, autosomal recessive	10y04m	-	-	mild language disorder	-	Johan den Dunnen	00460005
0000347733	see paper; ..., white matter abnormalities; 3m-seizures; dysmorphism; 5y6m regression	-	peroxisomal acyl-CoA oxidase deficiency	Familial, autosomal recessive	8y8m	-	-	-	-	Johan den Dunnen	00460006

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