Phenotypes for disease #01816 (MADD (acyl-CoA dehydrogenation deficiency, multiple (MADD)), OMIM:231680)

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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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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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!	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
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combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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\|	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
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>=	Numeric	>=23	all entries higher than, or equal to, 23
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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127 entries on 2 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	Protein	Owner	Individual ID
0000143263	(HP:0045045) Elevated plasma acylcarnitine levels	-	-	Familial, autosomal recessive	-	-	-	-	-	Belen Perez	00180982
0000143318	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Belen Perez	00181065
0000173125	-	multiple acyl-CoA dehydrogenation deficiency	MADD;GA-2B	Familial, autosomal recessive	-	-	-	-	-	Belen Perez	00181017
0000173126	see paper; …	multiple acyl-CoA dehydrogenation deficiency	LSMFLAD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00230646
0000173127	see paper; …	multiple acyl-CoA dehydrogenation deficiency	LSMFLAD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00230647
0000173128	see paper; …	multiple acyl-CoA dehydrogenation deficiency	LSMFLAD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00230648
0000173129	see paper; …	multiple acyl-CoA dehydrogenation deficiency	LSMFLAD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00230649
0000173130	see paper; …	multiple acyl-CoA dehydrogenation deficiency	LSMFLAD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00230650
0000173131	see paper; …	multiple acyl-CoA dehydrogenation deficiency	LSMFLAD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00230651
0000173132	see paper; …	multiple acyl-CoA dehydrogenation deficiency	LSMFLAD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00230652
0000173468	severe form	multiple acyl-CoA dehydrogenation deficiency	MADD	Familial, autosomal recessive	-	-	-	-	-	Rikke Katrine Jentoft Olsen	00230984
0000201655	muscle weakness, muscular hypotonia, mild myogenic damage，myocardial damage，fatty liver	-	-	Familial, autosomal recessive	-	-	-	-	-	Guorui Hu	00263297
0000228660	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Helen Latsoudis	00301529
0000342151	see paper; ..., birth 32w-urgent caesarean section due to cardiotocographic alterations in primigravida, 31w-pregnancy complicated by oligo-hydramnios, intrauterine fetal growth retardation, significantly hypotonic, weight 1470g (24th centile), length 40cm (21st centile), OFC 31cm (84th centile)	multiple acyl-CoA dehydrogenase deficiency	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453493
0000342152	see paper; ..., newborn screening	multiple acyl-CoA dehydrogenase deficiency	MADD	Familial, autosomal recessive	3y	-	-	-	-	Johan den Dunnen	00453494
0000342153	see paper; ..., newborn screening	multiple acyl-CoA dehydrogenase deficiency	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453495
0000342154	see paper; ..., newborn screening	multiple acyl-CoA dehydrogenase deficiency	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453496
0000342155	see paper; ..., newborn screening	multiple acyl-CoA dehydrogenase deficiency	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453497
0000366935	see paper; ..., expanded newborn screening VLCAD deficiency/isovaleric acidemia; 3m-vocal cord paralysis, dyspnea with stridor; 4m-bedridden due to hypoxic-ischemic encephalopathy due to fulminant respiratory failure with aspiration pneumonia	-	LSMFLAD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484156
0000366936	see paper; ...	MADD	LSMFLAD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00311076
0000366937	-	MADD	LSMFLAD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484157
0000366938	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484158
0000366939	lipid storage myopathy, no multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	-	Unknown	-	-	-	-	-	Johan den Dunnen	00484159
0000366940	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484160
0000366941	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484161
0000366942	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484162
0000366943	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484163
0000366944	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484164
0000366945	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484165
0000366946	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484166
0000366947	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	-	Unknown	-	-	-	-	-	Johan den Dunnen	00484167
0000366948	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484168
0000366949	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484169
0000366950	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484170
0000366951	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484171
0000366952	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484172
0000366953	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484173
0000366954	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484174
0000366955	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484175
0000366956	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484176
0000366957	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484177
0000366958	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484178
0000366959	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484179
0000366960	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	-	Unknown	-	-	-	-	-	Johan den Dunnen	00484180
0000366961	lipid storage myopathy	lipid storage myopathy	-	Unknown	-	-	-	-	-	Johan den Dunnen	00484181
0000366962	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484182
0000366963	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484183
0000366964	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484184
0000366965	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484185
0000366966	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484186
0000366967	lipid storage myopathy, no multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484187
0000366968	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484188
0000366969	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484189
0000366970	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484190
0000366971	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484191
0000366972	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484192
0000366973	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484193
0000366974	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484194
0000366975	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484195
0000366976	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484196
0000366977	lipid storage myopathy, no multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484197
0000366978	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484198
0000366979	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	-	Unknown	-	-	-	-	-	Johan den Dunnen	00484199
0000366980	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484200
0000366981	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484201
0000366982	lipid storage myopathy, no multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484202
0000366983	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484203
0000366984	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484204
0000366985	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484205
0000366986	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484206
0000366987	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484207
0000366988	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484208
0000366989	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484209
0000366990	lipid storage myopathy, no multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484210
0000366991	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484211
0000366992	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484212
0000366993	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484213
0000366994	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484214
0000366995	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484215
0000366996	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484216
0000366997	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484217
0000366998	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484218
0000366999	lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484219
0000367000	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484220
0000367001	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484221
0000367002	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484222
0000367003	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484223
0000367004	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484224
0000367005	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484225
0000367006	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484226
0000367007	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484227
0000367008	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484228
0000367009	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484229
0000367010	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484230
0000367011	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484231
0000367012	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484232
0000367013	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484233
0000367014	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484234
0000367015	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484235
0000367016	lipid storage myopathy	lipid storage myopathy	MADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00484236

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