Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Diagnosis/Initial: initial diagnosis, before molecular testing

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

Growth/Prenatal: individual has abnormal prenatal (intrauterine) growth
All options:

• normal = normal growth
• abnormal = growth abnormality (HP:0001507)
• delayed growth = delayed growth (HP:00001510)
• overgrowth = prenatal overgrowth (HP:0001548)
• no overgrowth = no prenatal overgrowth (-HP:0001548)
• large = large for gestational age (HP:0001520)
• not large = not large for gestational age (-HP:0001520)
• small = small for gestational age (HP:0001518)
• not small = not small for gestational age (-HP:0001518)
• growth retardation = prenatal growth retardation (HP:0001511, IUGR)
• no growth retardation = no prenatal growth retardation (-HP:0001511)
• retardation prenatal mild = mild prenatal growth retardation (HP:0008883)
• retardation prenatal moderate = moderate prenatal growth retardation (HP:0011408)
• retardation prenatal severe = severe prenatal growth retardation (HP:0008846)
• ? = unknown
• nr = not reported

Growth/Postnatal: does the individual have postnatal growth retardation
All options:

• normal = normal growth
• abnormal = growth abnormality (HP:0001507)
• delayed = delayed growth (HP:00001510)
• overgrowth (postnatal) = postnatal overgrowth (HP:0001548)
• no overgrowth (postnatal) = no postnatal overgrowth (-HP:0001548)
• growth retardation (postnatal) = postnatal growth retardation (HP:0008897)
• no growth retardation (postnatal) = no postnatal growth retardation (-HP:0008897)
• growth retardation postnatal mild = mild postnatal growth retardation (HP:0001530)
• growth retardation postnatal moderate = moderate postnatal growth retardation (HP:0008855)
• growth retardation postnatal severe = severe postnatal growth retardation (HP:0008850)
• ? = unknown
• nr = not reported

Head/Size: individual has abnormal size of the head
All options:

• macrocephaly = macrocephaly (HP:0000256)
• no macrocephaly = no macrocephaly (-HP:0000256)
• macrocephaly congenital = congenital macrocephaly (HP:0004488)
• no macrocephaly congenital = no congenital macrocephaly (-HP:0004488)
• macrocephaly postnatal = postnatal macrocephaly (HP:0005490)
• macrocephaly progressive = progressive macrocephaly (HP:0004481)
• macrocephaly relative = relative macrocephaly (HPO_0004482)
• microcephaly = microcephaly (yes <3rd centile, HP:0000252)
• no = no microcephaly (-HP:0000252, -)
• congenital = congenital microcephaly (HP:0011451)
• microcephaly mild = mild microcephaly (HP:0040196)
• postnatal = postnatal microcephaly (HP:0005484)
• progressive = postnatal progressive microcephaly (HP:0000253)
• ? = unknown
• nr = not reported
• n/a = not applicable

Asymmetry: individual has asymmetries, please specify
All options:

• asymmetric growth = asymmetric growth (HP:0100555)
• no asymmetric growth = no asymmetric growth (-HP:0100555)
• breasts = asymmetry breasts (HP:0010312)
• chest = asymmetric chest (thorax) (HP:0001555)
• cornea = asymmetry corneas (HP:0009915)
• cranial = cranial asymmetry (HP:0000267)
• craniofacial = craniofacial asymmetry (HP:0004484)
• ears = asymmetry ears (HP:0010722)
• face = asymmetric face (HP:0000324)
• face left = smaller left face (HP:0000324)
• face right = smaller right face (HP:0000324)
• face crying = asymmetric crying face (HP:0011333)
• foot = asymmetry foot (HP:0010507)
• foot left = smaller left foot (HP:0010507)
• foot right = smaller right foot (HP:0010507)
• iris = asymmetry of iris pigmentation (HP:0200064)
• leg = asymmetric limb shortening (HP:0200053)
• limb = asymmetric limb shortening (HP:0100556)
• limb lower = asymmetry lower limb (HP:0100559)
• limb lower left = smaller left leg (HP:0100559)
• limb lower right = smaller right leg (HP:0100559)
• limb upper = asymmetry upper limb (HP:0100560)
• limb upper left = smaller left arm (HP:0100560)
• limb upper right = smaller right arm (HP:0100560)
• limb hypertrophy = asymmetric limb hypertrophy (HP:0001528)
• mandible = asymmetry mandible (HP:0009940)
• maxilla = asymmetry maxilla (HP:0010755)
• mouth = asymmetry mouth (HP:0009941)
• nare = asymmetry nares (HP:0009930)
• pelvic = pelvic asymmetry (HP:0010453)
• pupil = ssymmetry pupils (HP:0009916)
• skin = asymmetric linear skin defects (HP:0007398)
• skull = asymmetry skull (HP:0002678)
• stature short = asymmetric short stature (HP:0008929)
• ventricules = asymmetric ventricles (HP:0100960)
• ? = unknown
• nr = not reported

Abdominal/Symptoms: individual has abdominal symptoms (please specify)
All options:

• abdominal = abdominal symptoms (HP:0011458)
• anorexia = anorexia (HP:0002039)
• appetite poor = appetite poor (HP:0004396)
• feeding problems = feeding problems (HP:0011968, +)
• no feeding problems = feeding problems (-HP:0011968)
• feeding delayed = delayed self-feeding toddler years (HP:0012381)
• feeding infancy = feeding problems infancy (HP:0008872)
• feeding nasal regurgitation = nasal regurgitation (HP:0011469)
• feeding poor suck = poor suck (HP:0002033)
• feeding tube gastrostomy = gastrostomy tube feeding infancy (HP:0011471)
• feeding tube nasogastric = nasogastric tube feeding infancy (HP:0011470)
• malnutrition = malnutrition (HP:0004395)
• protein avoidance = protein avoidance (HP:0002038)
• constipation = constipation (HP:0002019)
• distention = abdominal distention (HP:0003270)
• protuberant = protuberant abdomen (HP:0001538
• diarrhea = diarrhea (HP:0002014)
• diarrhea chronic = chronic diarrhea (HP:0002028)
• diarrhea intermittent = intermittent diarrhea (HP:0002254)
• diarrhea intractable = intractable diarrhea (HP:0002041)
• diarrhea protracted = protracted diarrhea (HP:0004385)
• diarrhea secretory = secretory diarrhea (HP:0005208)
• nausea/vomitting = nausea and vomitting (HP:0002017)
• nausea = nausea (HP:0002018)
• vomitting = vomitting (HP:0002013)
• vomitting episodic = episodic vomitting (HP:0002572)
• vomitting projectile = projectile vomitting (HP:0002587)
• pain = abdominal pain (HP:0002027)
• colic = abdominal colic (HP:0011848)
• pain epidosic = episodic abdominal pain (HP:0002574)
• normal = no abdominal symptoms
• ? = unknown
• nr = not reported
• n/a = not analysed

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

Birth_Details: birth details individual: gestational age (weeks), premature birth (HP:0001622, <37w); birth weight (in g/SD); birth length (in cm/SD); OFC at birth (in cm/SD)

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

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.