Phenotypes for disease #01905 (MLYCDD (malonyl-CoA decarboxylase deficiency (MLYCDD)), OMIM:248360)

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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'
$	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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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
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>=	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.
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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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35 entries on 1 page. Showing entries 1 - 35.

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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
0000235168	see paper; ...	malonyl-coA decarboxylase deficiency	-	Unknown	-	-	-	-	-	Johan den Dunnen	00309853
0000258068	see paper; ..., delayed neurological development, seizures, no short stature, no acidosis, no hypoglycemia, no cardiomyopathy	-	-	Familial, autosomal recessive	03y11m	-	-	-	-	Johan den Dunnen	00362697
0000258069	see paper; ..., delayed neurological development, seizures, no short stature, no acidosis, hypoglycemia, no cardiomyopathy	-	-	Familial, autosomal recessive	13y	-	-	-	-	Johan den Dunnen	00362698
0000258070	see paper; ...	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00362699
0000258071	see paper; ..., cardiomyopathy (2/2), acidosis (HACMA), hypglycaemia (HACMA)	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00362701
0000258072	see paper; ..., developmental delay, acidosis	-	-	Familial, autosomal recessive	18y	-	-	-	-	Johan den Dunnen	00362702
0000258073	see paper; ..., developmental delay, seizures	-	-	Familial, autosomal recessive	00y21m	-	-	-	-	Johan den Dunnen	00362703
0000258074	see paper; ..., acidosis	-	-	Familial, autosomal recessive	00y00m06d	-	-	-	-	Johan den Dunnen	00362704
0000258075	see paper; ..., developmental delay, acidosis, hypoglycaemia	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00362705
0000258076	see paper; ..., developmental delay, seizures, cardiomyopathy	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00362706
0000258077	see paper; ..., developmental delay, short stature, acidosis,	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00362707
0000258078	see paper; ..., developmental delay, seizures, acidosis, hypoglycaemia, cardiomyopathy	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00362708
0000258079	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00362709
0000258080	mild	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00362710
0000258081	see paper; ..., 4m15-died suddenly	-	-	Unknown	00y04m	-	-	-	-	Johan den Dunnen	00362711
0000258082	see paper; ...	MLYCDD	-	Familial, autosomal recessive	00y55m	-	-	-	-	Johan den Dunnen	00362712
0000258083	see paper; ..., respiratory distress, metabolic acidosis, hypoglycemia, hypotonia, seizures	MLYCDD	-	Familial, autosomal recessive	-	8d	-	-	-	Johan den Dunnen	00362713
0000258084	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	-	8d	-	-	-	Johan den Dunnen	00362714
0000258085	see paper; ..., respiratory distress, hypotonia	MLYCDD	-	Familial, autosomal recessive	-	6d	-	-	-	Johan den Dunnen	00362715
0000258086	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	-	8d	-	-	-	Johan den Dunnen	00362716
0000258087	see paper; ..., respiratory distress, hypotonia, metabolic acidosis	MLYCDD	-	Familial, autosomal recessive	-	6m	-	-	-	Johan den Dunnen	00362717
0000258088	see paper; ..., hypoglycemia, metabolic acidosis	MLYCDD	-	Familial, autosomal recessive	-	21d	-	-	-	Johan den Dunnen	00362718
0000258089	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	-	5d	-	-	-	Johan den Dunnen	00362719
0000258090	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	-	5d	-	-	-	Johan den Dunnen	00362720
0000258091	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	-	17d	-	-	-	Johan den Dunnen	00362721
0000258092	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	13y	-	-	-	-	Johan den Dunnen	00362722
0000258093	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00362723
0000258094	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	10y	-	-	-	-	Johan den Dunnen	00362724
0000258095	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	18m	-	-	-	-	Johan den Dunnen	00362725
0000258096	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	6m	-	-	-	-	Johan den Dunnen	00362726
0000258097	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	20m	-	-	-	-	Johan den Dunnen	00362727
0000258098	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	2y	-	-	-	-	Johan den Dunnen	00362728
0000258099	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	6m	-	-	-	-	Johan den Dunnen	00362729
0000258100	see paper; ...,	MLYCDD	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00362730
0000279479	see paper; ...	Mal de Meleda	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00385684

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Global Variome shared LOVD

KANSL3 (KAT8 regulatory NSL complex subunit 3)