Phenotypes for disease #00845 (ALAZS (Alazami syndrome (ALAZS)), OMIM:615071)

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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

How to query this table

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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'
!=""	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

Some more advanced examples:

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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15 entries on 1 page. Showing entries 1 - 15.

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How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000060466	Alazami syndrome (OMIM:615071)	-	-	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00080897
0000352802	Neurodevelopmental delay, Absent speech, Autism, Hyperglycemia, Elevated hemoglobin A1c	-	-	Unknown	10y	-	-	-	-	Andreas Laner	00467590
0000352803	see paper; ..., weight 26kg (-4.6 SD), height 133cm (-6.5 SD), OFC 48 (-5.9 SD); broad nose; short philtrum; low set ears; narrow and short palpebral fissure; intellectual disability; early developmental delay; seizure; autism spectrum disorder; myopia/hypermetropia; strabismus; pigmentary retinopathy; hyperthyroidism; renal artery stenosis	hyperoxaluria	HP1	Familial, autosomal recessive	19y	-	-	-	-	Johan den Dunnen	00467592
0000352804	see paper; ..., broad nose; short philtrum; narrow and short palpebral fissure; intellectual disability; early developmental delay; bilateral proximal radioulnar synostosis.	hyperoxaluria	HP1	Familial, autosomal recessive	29y	-	-	-	-	Johan den Dunnen	00467593
0000352805	see paper; ..., weight 15kg (-2.5 SD), height 102cm (-5 SD), OFC 48 (-2.4 SD); broad nose; deep-seated eyes; low set ears; triangular face; narrow and short palpebral fissure; sparse eyebrows; malar hypoplasia; intellectual disability; early developmental delay; myopia/hypermetropia; strabismus; blue sclera; mild conductive hearing loss	hyperoxaluria	HP1	Familial, autosomal recessive	6y	-	-	-	-	Johan den Dunnen	00467594
0000352806	see paper; ..., weight 10kg (-8.7 SD), height 88cm (-5 SD), OFC 45(-3.8 SD); broad nose; short philtrum; deep-seated eyes; intellectual disability; early developmental delay; myopia/hypermetropia; strabismus; renal artery stenosis	hyperoxaluria	HP1	Familial, autosomal recessive	5y	-	-	-	-	Johan den Dunnen	00467595
0000352807	see paper; ..., weight 11kg (-3.8 SD), height 91cm (-4.5 SD), OFC 44 (-5.0 SD); broad nose; intellectual disability; early developmental delay; autism spectrum disorder; clinodactyly; atrial septal defect; micropenis	hyperoxaluria	HP1	Familial, autosomal recessive	5y	-	-	-	-	Johan den Dunnen	00467596
0000352808	see paper; ..., weight 28kg (-4.4 SD), height 126cm (-5.7 SD), OFC 50 (-4 SD); broad nose; short philtrum; deep-seated eyes; low set ears; triangular face; sparse eyebrows; wide mouth; intellectual disability; early developmental delay; anxiety; cutaneous syndactyly; myopia, steep cornea with increased lens thickness; strabismus; blue sclera; pigmentary retinopathy; crowded optic disks; ectopic kidney	hyperoxaluria	HP1	Familial, autosomal recessive	20y	-	-	-	-	Johan den Dunnen	00467597
0000352809	see paper; ..., weight 26kg (-2.44 SD), height 129cm (-2.77 SD), OFC 50 (-2.55 SD); broad nose; short philtrum; deep-seated eyes; triangular face; malar hypoplasia; wide mouth; full lips; intellectual disability; early developmental delay; anxiety; syndactyly; thickened skin over the hands and feet; myopia, steep cornea with increased lens thickness; strabismus; blue sclera; pigmentary retinopathy; crowded optic disks; collecting system anomaly	hyperoxaluria	HP1	Familial, autosomal recessive	12y	-	-	-	-	Johan den Dunnen	00467598
0000352810	see paper; ..., weight 43kg (-0.4 SD), height 128(-4.1 SD), OFC 52 (-1.25 SD); broad nose; short philtrum; triangular face; intellectual disability; early developmental delay; seizure; cutis marmorata; collecting system anomaly; truncal obesity, acne vulgaris	hyperoxaluria	HP1	Familial, autosomal recessive	13y	-	-	-	-	Johan den Dunnen	00467599
0000352811	see paper; ..., weight 18kg (-3.6 SD), height 113cm (-4.4 SD); broad nose; short philtrum; triangular face; intellectual disability; early developmental delay; spina bifida occulta; collecting system anomaly; undescended testis	hyperoxaluria	HP1	Familial, autosomal recessive	11y	-	-	-	-	Johan den Dunnen	00467600
0000352812	see paper; ..., weight 6.9kg (-4.2 SD), height 73cm (-2.8 SD), OFC 43 (-3.6 SD); deep-seated eyes; low set ears; intellectual disability; early developmental delay; stereotypic behavior; clinodactyly; undescended testis; atrial septal defect	hyperoxaluria	HP1	Familial, autosomal recessive	1y6m	-	-	-	-	Johan den Dunnen	00467601
0000352813	see paper; ..., weight 17kg (-2.6 SD), height 106cm (-3.8 SD), OFC 48 (-2.9 SD); broad nose; deep-seated eyes; low set ears; intellectual disability; early developmental delay; stereotypic behavior; myopia/hypermetropia; strabismus; blue sclera; pigmentary retinopathy; crowded optic disks; collecting system anomaly; atrial septal defect	hyperoxaluria	HP1	Familial, autosomal recessive	8y	-	-	-	-	Johan den Dunnen	00467602
0000352814	see paper; ..., weight 9.3kg (-3.9 SD), height 87cm (-3.25 SD); broad nose; deep-seated eyes; low set ears; intellectual disability; early developmental delay; talipes equinovarus; myopia/hypermetropia; blue sclera; pigmentary retinopathy; atrial septal defect	hyperoxaluria	HP1	Familial, autosomal recessive	4y	-	-	-	-	Johan den Dunnen	00467603
0000352860	see paper; ...	Alazami syndrome	ALAZS	Familial, autosomal recessive	19y	-	-	-	-	Johan den Dunnen	00467695

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Global Variome shared LOVD

MT-CYB (mitochondrially encoded cytochrome b)