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

TSC/Features: select all features that apply
All options:

• ? = unknown
• angiofibromas = angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque
• angiofibromas facial= facial angiofibromas (HP:0009720)
• angiomyolipomas = angiomyolipomas (≥2, HP:0006772)
• astrocytoma = subependymal giant cell astrocytoma (HP:0009718)
• ADHD = attention deficit hyperactivity disorder (HP:0007018
• autism = autism spectrum disorder (HP:0000729)
• cysts renal = multiple renal cysts (HP:0000107)
• cortical tubers = cortical tubers (HP:0009717)
• dysplasias cortical = cortical dysplasias (HP:0002539, incl. tubers and cerebral white matter radial migration lines)
• dysplasia renal= renal dysplasia (HP:0000110)
• dental pits = dental enamel pits (>3, HP:0009722)
• epilepsy = epilepsy (HP:0001250)
• fibromas ungual = ungual fibromas (≥2, HP:0100804)
• fibromas intraoral = intraoral fibromas (≥2)
• hamartomas renal = renal hamartomas (HP:0008696)
• hamartomas non-renal = non-renal hamartomas
• hamartomas retinal = multiple retinal hamartomas (HP:0009594)
• lymphangioleiomyomatosis = lymphangioleiomyomatosis (LAM, HP:0012798)
• macules hypomelanotic = hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719)
• nodules = subependymal nodules (HP:0009716)
• renal cell carcinoma = renal cell carcinoma (HP:0005584)
• retinal achromatic patch = retinal achromatic patch (HP:0009727)
• rhabdomyoma cardiac = cardiac rhabdomyoma (HP:0009729)
• sclerotic bone lesions = sclerotic bone lesions
• Shagreen patch = Shagreen patch (HP:0009721)
• skin lesions = 'confetti' skin lesions (HP:0007449)
• spasm = infantile spasms (HP:0012469)

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

Seizures: does individual have seizures (please specify)
All options:

• no = no seizures (-HP:0001250)
• seizures = seizures (HP:0001250)
• absence = absence seizures (HP:0002121)
• absence atypical = atypical absence seizures (HP:0007270)
• absence with eyelid myoclonia = absence seizures with eyelid myoclonia (HP:0011149)
• absence with special features = absence seizures with special features (HP:0011148)
• atonic (drop/astatic/hypotonic) = atonic seizures (drop, astatic, hypotonic) (HP:0010819)
• bilateral convulsive = bilateral convulsive seizures (HP:0007334)
• complex febrile = complex febrile seizures (HP:0011172)
• dacrystic = dacrystic seizures (HP:0010820)
• developmental stagnation = developmental stagnation at onset of seizures (HP:0006834)
• dialeptic = dialeptic seizures (HP:0011146)
• early onset absence = early onset absence seizures (HP:0011152)
• EEG = abnormal EEG (HP:0002353)
• febrile = febrile seizures (HP:0002373)
• focal = focal seizures (HP:0007359)
• focal afebrile = seizures, focal (partial), afebrile (HP:0040168)
• focal autonomic = focal autonomic seizures (HP:0011154)
• focal autonomic altered responsiveness = focal autonomic seizures with altered responsiveness (HP:0011155)
• focal autonomic no altered responsiveness = focal autonomic seizures without altered responsiveness (HP:0011156)
• focal clonic = focal clonic seizures (HP:0002266)
• focal complex = complex focal seizures with impairment of consciousness or awareness (HP:0002384)
• focal motor = focal motor seizures (HP:0011153)
• focal myoclonic = focal myoclonic seizures (HP:0011166)
• focal simple = focal seizures without impairment of consciousness or awareness (HP:0002349)
• focal tonic = focal tonic seizures (HP:0011167)
• gelastic = gelastic seizures (HP:0010821)
• generalized = generalized seizures (HP:0002197)
• generalized clonic = generalized clonic seizures (HP:0011169)
• generalized myoclonic = generalized myoclonic seizures (HP:0002123)
• generalized recurrent = generalized seizures, recurrent (HP:0002197)
• generalized tonic = generalized tonic seizures (HP:0010818)
• generalized tonic-clonic = seizures, generalized, tonic-clonic (HP:0002069)
• generalized tonic-clonic photosensitive = seizures, tonic-clonic, photosensitive (HP:0007207)
• generalized tonic-clonic awakening = generalized tonic-clonic seizures on awakening (HP:0007193)
• hemiclonic (unilateral clonic) = hemiclonic seizures (unilateral clonic) (HP:0006813)
• hemifacial = hemifacial seizures (HP:0007332)
• hyperkinetic = hyperkinetic seizures (HP:0011174)
• hypocalcemic = hypocalcemic seizures (HP:0002199)
• hypoglycemic = hypoglycemic seizures (HP:0002173)
• hypokinetic = hypokinetic seizures (HP:0011173)
• maternal = maternal seizures (HP:0100622)
• multifocal = multifocal seizures (HP:0031165)
• myoclonic atonic = myoclonic atonic seizures (HP:0011170)
• petit mal = petit mal seizures (HP:0011147)
• photomyoclonic = photomyoclonic seizures (HP:0001327)
• salaam = salaam seizures (HP:0011097)
• simple febrile = simple febrile seizures (HP:0011171)
• simple partial occipital = simple partial occipital seizures (HP:0011165)
• symptomatic = symptomatic seizures (HP:0011145)
• versive = versive seizures (HP:0011175)
• ? = unknown
• n/a = not analysed

Intellectual_dis: individual has intellectual disability (intellectual disability (mental retardation), HP:0001249,mental retardation); please specify
All options:

• yes = intellectual disability (HP:0001249, IQ below 70)
• borderline = intellectual disability, borderline (HP:0006889, IQ 70-79)
• mild = intellectual disability, mild (HP:0001256, IQ 50-69)
• moderate = intellectual disability, moderate (HP:0002342, IQ 35-49)
• profound = intellectual disability, profound (HP:0002187, IQ below 20)
• severe = intellectual disability, severe (HP:0010864, IQ 20-34)
• progressive = intellectual disability, progressive (HP:0006887)
• no = no intellectual disability (IQ above 79, -)
• ? = unknown
• n/a = not analysed

Protein: result from protein staining

Cognitive/Impairment: does the individual have cognitive impairment (HPO_0100543)
All options:

• normal (IQ >80)
• - = absent (normal)
• + = present
• undefined = IQ <80
• borderline = IQ 70-80
• normal-mild
• mild = IQ 50-70
• mild-moderate
• moderate
• moderate-severe = IQ <50
• severe
• ? = unknown
• n/a = not analysed

Hypertension: individual has hypertension (please specify)
All options:

• episodic = episodic hypertension (HP:0000875)
• extrahepatic = extrahepatic portal hypertension (HP:0004941)
• hypertension = hypertension (HP:0000822)
• maternal = maternal hypertension (HP:0008071)
• pheochromocytoma = pheochromocytoma ass. hypertension (HP:0002640)
• portal = portal hypertension (HP:0001409)
• pulmonary = pulmonary hypertension (HP:0002092)
• renovascular = renovascular hypertension (HP:0100817)
• no = no hypertension
• ? = unknown
• n/a = not applicable

Development: individual has developmental (psychomotor) delay; please specify (global, cognitive, language/speech, mental, motor, social/emotional)
All options:

• global = global developmental delay (+, HP:0001263)
• global mild = mild global developmental delay (HP:0011342)
• global moderate = moderate global developmental delay (HP:0011343)
• global profound = profound global developmental delay (HP:0012736)
• global severe = severe global developmental delay (HP:0011344)
• motor = motor delay (HP:0001270)
• no motor = no motor delay (HP:0001270)
• motor fine = delay fine motor development (HP:0010862)
• motor gross = delay gross motor development (HP:0002194)
• neurodevelopmental = neurodevelopmental delay (HP:0012758)
• regression = developmental regression (HP:0002376)
• stagnation = developmental stagnation (HP:0007281)
• stagnation seizures = developmental stagnation at onset seizures (HP:0006834)
• social = delayed social development (HP:0012434)
• speech/language = delayed speech/language development (HP:0000750)
• no = no developmental delay (-)
• ? = unknown
• n/a = not analysed

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'

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