Phenotypes for disease #05493 (CCDS3;GATMD (deficiency, cerebral creatine, syndrome, type 3 (CCDS3, arginine-glycine amidinotransferase deficiency (GAMTD))), OMIM:612718)

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Diagnosis/Initial: initial diagnosis, before molecular testing

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

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

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	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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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'
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\|	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
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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
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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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38 entries on 1 page. Showing entries 1 - 38.

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000144696	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184566
0000144697	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184567
0000144698	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184568
0000144699	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184569
0000144700	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184570
0000144701	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184571
0000144702	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184572
0000144703	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184573
0000144704	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184574
0000144709	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184579
0000144710	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184580
0000144713	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184583
0000144714	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184584
0000144717	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184587
0000144718	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184588
0000144719	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184589
0000144722	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184592
0000144723	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184593
0000144724	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184594
0000144725	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184595
0000144726	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184596
0000144727	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184597
0000144728	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184598
0000144729	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184599
0000144730	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184600
0000144731	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184601
0000144732	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184602
0000144733	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184603
0000144734	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184604
0000144735	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184605
0000144736	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184606
0000144737	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184607
0000144738	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184608
0000144739	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184609
0000144740	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Rahma MANI	00184610
0000144741	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184611
0000144742	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184612
0000144743	GAMT deficiency	CCDS-3	-	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184613

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