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.

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

Growth: does the individual have abnormal growth (pre- and post-natal)
All options:

• normal = normal growth
• abnormal = growth abnormality (HP:0001507)
• delayed = delayed (HP:00001510)
• overgrowth = overgrowth (HP:0001548)
• overgrowth prenatal = prenatal overgrowth (HP:0001548)
• overgrowth postnatal = postnatal overgrowth (HP:0001548)
• retardation prenatal = prenatal growth retardation (HP:0001511, IUGR)
• no retardation prenatal = 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)
• retardation postnatal = postnatal growth retardation (HP:0008897)
• retardation postnatal mild = mild postnatal growth retardation (HP:0001530)
• retardation postnatal moderate = moderate postnatal growth retardation (HP:0008855)
• retardation postnatal severe = severe postnatal growth retardation (HP:0008850)
• ? = unknown
• n/a = not analysed

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

Skin/Wrinkling: does the patient individual have abnormal skin wrinkling
All options:

• face = wrinkling, facial (HP:0009762)
• skin excessive = wrinkling, skin, excessive (HP:0007392, +)
• skin excessive dorum = wrinkling, skin, excessive, on dorum of hands/fingers (HP:0007407)
• skin excessive palmar = wrinkling, skin, excessive, palmar (HP:0007605)
• skin loose = wrinkling, skin, loose, hands/feet (palmoplantar cutis laxa, HPO_0007517)
• skin premature = wrinkling, skin (premature) (HP:0100678)
• skin neonatal = wrinkling, skin, neonatal of hands/feet (HP:0007414)
• periobital = wrinkles, periobital (HP:0000607)
• no = no increased wrinkling (-)
• ? = unknown
• n/a = not analysed

Hypermobility: does the individual have hypermobility/laxity (please specify)
All options:

• cervical spine = cervical spine hypermobility (HP:0003318)
• joint = joint hypermobility (HPO_0001382, +)
• joint finger = finger joint hypermobility (HP:0006094)
• joint interphalangeal = hypermobility interphalangeal joints (HP:0005620)
• joint interphalangeal distal = hypermobility distal interphalangeal joints (HP:0006201)
• joint toe = hypermobility toe joints (HP:0010510)
• no = no hypermobility (-)
• ? = unknown
• n/a = not analysed

Hernia: individual has hernia(s), please specify
All options:

• hernia = hernia (HP:0100790)
• abdominal wall = hernia of the abdominal wall (HP:0004299)
• abdominal recurrent = recurrent abdominal hernia (inclusional) (HP:0004872)
• crural = crural hernia (HP:0100541)
• diaphragmatic = diaphragmatic hernia (HP:0000776)
• diaphragmatic congenital = congenital diaphragmatic hernia (HP:0000776)
• femoral = femoral hernia (HP:0100541)
• genital = genital hernia (HP:0100823)
• hiatal = hiatal hernia (HP:0002036)
• inguinal = inguinal hernia (HP:0000023, +)
• intervertebral nuclei = herniated intervertebral nuclei (HP:0008441)
• omphalocele = omphalocele (HP:0001539)
• umbilical = umbilical hernia (HP:0001537)
• vaginal = vaginal hernia (HP:0100672)
• ventral = ventral hernia (HP:0002933)
• no = no hernia
• ? = unknown
• n/a = not analysed

Foot/Abnormality: individual has abnormality foot (please specify)
All options:

• abnormality = abnormality foot (HP:0001760, +)
• absent = absent foot (HP:0011301)
• abnormality musculature = abnormality foot musculature (HP:0001436)
• asymmetry = foot asymmetry (HP:0010507)
• bone ossification = abnormal foot bone ossification (HP:0010675)
• brachydactyly = brachydactyly foot (HP:0001831)
• broad = broad foot (HP:0001769)
• calcaneovalgus = calcaneovalgus foot (HP:0001848)
• club (talipes equinovarus) = club foot (talipes equinovarus) (HP:0001762)
• contractures congenital = congenital foot contractures (HP:0005745)
• contraction deformities congenital = congenital foot contraction deformities (HP:0005853)
• deformities positional = positional foot deformities (HP:0005656)
• deformity structural = structural foot deformity (HP:0010219)
• deformities talipes = talipes foot deformities (HP:0001883)
• deformity valgus = valgus foot deformity (HP:0008081)
• drop foot (extensor/dorsiflexor weakness) = foot drop (extensor/dorsiflexor weakness) (HP:0009027)
• medial deviation = medial deviation foot (HP:0008082)
• narrow = narrow foot (HP:0001786)
• polydactyly postaxial = posterior (postaxial) polydactyly of foot (HP:0001830)
• polydactyly preaxial = preaxial polydactyly of foot (HP:0001841)
• polysyndactyly postaxial = postaxial polysyndactyly of foot (HP:0005817)
• short = short foot (HP:0001773)
• skin plantar = abnormality plantar skin of foot (HP:0100872)
• split (lobster-claw deformity) = split foot (lobster-claw deformity) (HP:0001839)
• ulcers penetrating = penetrating foot ulcers (HP:0001026)
• no = no abnormality
• ? = unknown
• n/a = not analysed

Scoliosis: does the individual have scoliosis or kyphoscoliosis (please specify)
All options:

• kyphoscoliosis = kyphoscoliosis (HP:0002751)
• kyphoscoliosis congenital = kyphoscoliosis, congenital (HP:0008453)
• kyphoscoliosis lumbar = kyphoscoliosis, lumbar (HP:0004626)
• kyphoscoliosis thoracic = kyphoscoliosis, thoracic (HP:0005659)
• kyphoscoliosis thoracolumbar = kyphoscoliosis, thoracolumbar (HP:0003423)
• scoliosis = scoliosis (HP:0002650, +)
• scoliosis compensatory = scoliosis, compensatory (HP:0100884)
• scoliosis congenital progressive = scoliosis, congenital, progressive (HP:0008458)
• scoliosis lumbar = scoliosis, lumbar (HP:0004626)
• scoliosis thoracic = scoliosis, thoracic (HP:0002943)
• scoliosis thoracolumbar = scoliosis, thoracolumbar (HP:0002944)
• no = no (kypho)scoliosis
• ? = unknown
• n/a = not analysed

Head/Fontanel: individual has abnormality fontanel (please specify)
All options:

• abnormal = abnormality of fontanelles(HP:0011328)
• abnormal fontanel/sutures = abnormality fontanelles and cranial sutures(HP:0000235)
• abnormal anterior = abnormality anterior fontanelle(HP:0000236)
• abnormal anterior small = small anterior fontanel(HP:0000237)
• anterior large open = large open anterior fontanel(HP:0000260)
• closure delayed = delayed closure of fontanel(HP:0000270)
• closure delayed (persistent) anterior = delayed closure (persistent) anterior fontanel(HP:0001476)
• closure delayed large = large, late-closing fontanelle(HP:0000239)
• closure premature fontanel = premature fontanel closure(HP:0001363)
• closure premature fontanelles = premature closure of fontanelles(HP:0005458)
• closure premature anterior = premature anterior fontanel closure(HP:0008491)
• closure premature posterior = premature posterior fontanelle closure(HP:0005494)
• extra = extra fontanelles(HP:0012367)
• midline skin dimples over = midline skin dimples over anterior/posterior fontanelles(HP:0005498)
• persistent anterior open = persistent open anterior fontanelle(HP:0004474)
• persistent wide = persistent wide fontanel(HP:0010537)
• posterior large = large posterior fontanel(HP:0004491)
• small = small fontanelles(HP:0005486)
• widely patents = widely patent fontanels and sutures(HP:0004492)
• no = normal fontanel
• ? = unknown
• n/a = not analysed

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

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

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

Hypotonia: does the individual have hypotonia (please specify)
All options:

• appendicular = appendicular hypotonia (HP:0012389)
• central = central hypotonia (HP:0011398)
• facial = facial hypotonia (HP:0000297)
• episodic generalized = episodic generalized hypotonia (HP:0006852)
• generalized = generalized hypotonia (HP:0001290, +)
• generalized defect NMJ = generalized hypotonia due to defect at neuromuscular junction (HP:0003397)
• infantile axial = infantile axial hypotonia (HP:0009062)
• infantile muscular = infantile muscular hypotonia (HP:0008947)
• muscular = muscular hypotonia (HP:0001252)
• muscular severe = severe muscular hypotonia (HP:0006829)
• muscular trunk = muscular hypotonia trunk (HP:0008936)
• neonatal = neonatal hypotonia (HP:0001319)
• neonatal generalized = generalized neonatal hypotonia (HP:0008935)
• neonatal severe males = severe neonatal hypotonia in males (HP:0006830)
• oral motor = oral motor hypotonia (HP:0030190)
• no = no hypotonia (-)
• ? = unknown
• n/a = not analysed

Eye/Lens/Cataract: individual has cataract (please specify)
All options:

• cataract = cataract (HP:0000518)
• age-related = age-related cataract (HP:0011141)
• age-related second/third decade = cataracts develop in second or third decade (HP:0007825)
• age-related cortical = age-related cortical cataract (HP:0011143)
• age-related nuclear = age-related nuclear cataract (HP:0011142)
• age-related posterior subcapsular = age-related posterior subcapsular cataract (HP:0011144)
• early = early cataracts (HP:0001113)
• juvenile = juvenile cataract (HP:0001118)
• juvenile cortical = juvenile cortical cataract (HP:0007876)
• juvenile zonulars = juvenile zonular cataracts (HP:0007713)
• presenile = presenile cataract (HP:0007819)
• progressive = cataract, progressive (HP:0007834)
• anterior cortical = anterior cortical cataract (HP:0007795)
• anterior polar = anterior polar cataract (HP:0001134)
• anterior subcapsular = anterior subcapsular cataract (HP:0010923)
• capsular = capsular cataract (HP:0100017)
• capsular posterior = posterior capsular cataract (HP:0100020)
• cortical pulverulen = cataracts, cortical pulverulen (HP:0007780)
• posterior subcapsular iridescent = cataracts, posterior, subcapsular, iridescent (HP:0007889)
• cerulean (congenital) = cerulean (congenital) cataract (HP:0007976)
• congenital/lenticular (bilateral) = cataract congenital/lenticular (bilateral) (HP:0000519)
• coralliform = coralliform cataract (HP:0010921)
• cortical = cortical cataract (HP:0100019)
• cortical dense posterior = dense posterior cortical cataract (HP:0007948)
• cortical posterior = posterior cortical cataract (HP:0010924)
• fasciculiform = fasciculiform cataract (frosted, needle-shaped, aculeiform) (HP:0010926)
• lamellar (congenital) = lamellar cataract (congenital) (HP:0007971)
• lamellar pulverulent = lamellar pulverulent cataract (HP:0010694)
• membranous = membranous cataract (HP:0010922)
• nonnuclear polymorphic congenital = nonnuclear polymorphic congenital cataract (HP:0007692)
• nuclear = nuclear cataract (HP:0100018)
• nuclear congenital = congenital nuclear cataract (HP:0008024)
• nuclear diffuse = diffuse nuclear cataract (HP:0007657)
• nuclear pulverulent = pulverulent nuclear (central) cataract (HP:0010698)
• pulverulent = pulverulent cataract (HP:0010693)
• nuclear punctate = nuclear punctate cataract (HP:0010925)
• nuclear triangular = triangular nuclear cataract (HP:0010699)
• polar = polar cataract (HP:0010696)
• polar posterior = posterior polar cataract (HP:0001115)
• punctate = punctate cataract (HP:0007648)
• pyramidal (anterior) = pyramidal (anterior) cataract (HP:0010697)
• subcapsula (lenticular) = cataract subcapsula (lenticular) (HP:0000523)
• subcapsular posterior = posterior subcapsular cataract (HP:0007787)
• sutural = sutural cataract (HP:0010695)
• total = total cataract (HP:0010700)
• y-sutural posterior = posterior y-sutural cataract (HP:0008031)
• zonular = zonular cataract (HP:0010920)
• no = no cataract
• ? = unknown
• n/a = not analysed

Protein: result from protein staining

Eye/Movement: individual has abnormality in eye movement (please specify)
All options:

• abnormal = abnormal eye movement (HP:0000496)
• abduction ocular = abnormality of ocular abduction
• adduction impaired = impaired ocular adduction
• apraxiao culomotor = oculomotor apraxia
• fixation = abnormal visual fixation
• movement conjugate = abnormal conjugate eye movement
• supranuclear gaze palsy = supranuclear gaze palsy
• convergence impaired = impaired convergence
• cyclodeviation
• esodeviation
• exodeviation
• heterophoria
• heterotropia
• hypodeviation
• hyperdeviation
• strabismus = strabismus (HP:0000486)
• strabismus alternating = alternating strabismus (HP:0031717)
• strabismus congenital = congenital strabismus (HP:0000487)
• strabismus comitant = comitant strabismus
• strabismus convergent = convergent strabismus (HP:0020054)
• strabismus divergent = divergent strabismus (HP:0020045)
• strabismus incomitant = incomitant strabismus
• strabismus incomitant horizontal = incomitant strabismus horizontal (HP:0020044)
• strabismus incomitant vertical = incomitant strabismus vertical (HP:0020043)
• strabismus monocular = monocular strabismus (HP:0010877)
• strabismus neurogenic = neurogenic strabismus (HP:0032775)
• strabismus unilateral = unilateral strabismus (HP:0010877)
• esophoria = esophoria
• esotropia = esotropia (HP:0000565)
• esotropia alternating = alternating esotropia (HP:0001137)
• exophoria = exophoria
• exotropia = exotropia (HP:0000577)
• exotropia congenital = congenital exotropia (HP:0008033)
• movements extraocular = limited extraocular movements
• movements involuntary = abnormal involuntary eye movements
• movements conjugate chaotic = chaotic rapid conjugate ocular movements (HP:0007295)
• movements eye paroxysmal = paroxysmal involuntary eye movements (HP:0007704)
• movements eye uncontrolled = uncontrolled eye movements (HP:0007738)
• opsoclonus = opsoclonus (HP:0010543)
• nystagmus = nystagmus (HP:0000639)
• nystagmus-induced head nodding = nystagmus-induced head nodding (HP:0001361)
• nystagmus congenital = congenital nystagmus (HP:0006934)
• nystagmus congenital horizontal = congenital horizontal nystagmus (HP:0007859)
• nystagmus divergence = divergence nystagmus (HP:0030691)
• nystagmus downbeat = downbeat nystagmus (HP:0010545)
• nystagmus gaze-evoked = gaze-evoked nystagmus (HP:0000640)
• nystagmus gaze-evoked horizontal = gaze-evoked horizontal nystagmus (HP:0007979)
• nystagmus horizontal = horizontal nystagmus (HP:0000666)
• nystagmus horizontal jerk = horizontal jerk nystagmus (HP:0007286)
• nystagmus horizontal monocular = horizontal monocular nystagmus (HP:0007747)
• nystagmus horizontal opticokinetic = horizontal opticokinetic nystagmus (HP:0008026)
• nystagmus horizontal pendular = horizontal pendular nystagmus (HP:0007811)
• nystagmus pendular = pendular nystagmus (HP:0012043)
• nystagmus physiologic = physiologic nystagmus (HP:0012044)
• nystagmus rotary = rotary nystagmus (HP:0001583)
• nystagmus upbeat = upbeat nystagmus (HP:0011477)
• nystagmus vertical = vertical nystagmus (HP:0010544)
• nystagmus vestibular = vestibular nystagmus (HP:0010542)
• movements saccadic = abnormality of saccadic eye movements
• ophthalmoparesis = ophthalmoparesis
• pursuit smooth = abnormality of ocular smooth pursuit
• compensatory chin elevation
• Duane anomaly = Duane anomaly
• Marcus Gunn = Marcus Gunn jaw winking synkinesis
• visual gaze preference = visual gaze preference
• normal = normal eye movement (-HP:0000496)
• ? = unknown

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.