Phenotypes for disease #01160 (ACRDYS-1 (acrodysostosis, with/without hormone resistance (ACRDYS-1)), OMIM:101800)

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

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

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

Stature: individual has abnormal stature
All options:

yes (<3rd centile)
stature, short (HPO_0004322)
stature, short, asymmetric (HPO_0008929)
stature, short, disproportionate (HPO_0003498)
stature, short, proportionate (HPO_0003508)
stature, short, mesomelic (HPO_0008845)
stature, short, mild (HPO_0003502)
stature, short, moderately (HPO_0008848)
stature, short, severe (HPO_0003510)
stature, tall (HPO_0000098)
stature, tall, proportionate (HPO_0011407)
stature, tall, disproportionate (HPO_0001519)
- = no
? = unknown
n/a = not analysed

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

Malformation/Genital: individual has genital malformations (please specify)
All options:

abnormal = genitourinary abnormalities (HP:0000078)
clitoral hypertrophy (HP:0008665)
cryptorchidism (HP:0000028)
epididymis abnormality (HP:0009714)
epispadias (HP:0000039)
hydronephrosis (HP:0000126)
hypospadias (HP:0000047)
genital external hypoplasia (HP:0003241)
genitalia external female hypoplastic (HP:0012815)
clitoral hypoplasia (HP:0000060)
labial hypoplasia (HP:0000066)
labia majora hypoplasia (HP:0000059)
labia minora hypoplasia (HP:0000064)
genitalia external male hypoplastic (HP:0000050)
penis hypoplasia (HP:0008736)
micropenis (HP:0000054)
microphallus (HP:0030260)
penis torsion (HP:0030263)
scrotal hypoplasia (HP:0000046)
testicular size decreased (HP:0008734)
prostate hypoplastic (HP:0008687)
urethral atresia (HP:0000068)
urethral atresia female (HP:0000067)
urethral atresia male (HP:0000052)
normal = no genitourinary abnormalities (-HP:0000078)
? = unknown
nr = not reported

Thyroid/Dysfunction: individual has abnormal thyroid function (please specify)
All options:

normal = no thyroid dysfunction (-HP:0002926)
thyroid dysfunction (HP:0002926)
hyperthyrodism (HP:0000836)
hypothyroidism (HP:0000821)
hypothyroidism, central (HP:0011787)
hypothyroidism, compensated (HP:0008223)
hypothyroidism, congenital (HP:0000851)
hypothyroidism, hypothalamic (HP:0008237)
hypothyroidism, pituitary (HP:0008245)
hypothyroidism, primary (HP:0000832)
thyroid agenesis (HP:0011787, congenital)
thyroiditis, Hashimoto (HP:0000872)
? = unknown
nr = not reported

Hearing/Loss: individual has hearing loss (hearing defect, hearing impairment), please specify
All options:

abnormal = hearing abnormality (HP:0000364)
hearing loss = hearing loss (defect, impairment) (HP:0000365, +)
aminoglycoside-induced = aminoglycoside-induced hearing loss (HP:0011975)
conductive = hearing loss, conductive (HP:0000405)
conductive bilateral = bilateral conductive hearing loss (HP:0008513)
conductive congenital = congenital conductive hearing loss (HP:0008591)
conductive mild = mild conductive hearing loss (HP:0008598)
conductive progressive = progressive conductive hearing loss (HP:0008607)
high frequency = high frequency hearing loss (progressive) (HP:0005101)
high frequency sensorineural = high frequency sensorineural hearing loss (HP:0001757)
low-frequency = low-frequency hearing loss (HP:0008542)
low-frequency sensorineural = low-frequency sensorineural hearing loss (HP:0008573)
mixed = hearing loss, mixed (HP:0000410)
otitis media = otitis media (HP:0000388)
otitis media acute = acute otitis media (HP:0000371)
otitis media chronic = chronic otitis media (HP:0000389)
otitis media recurrent = recurrent otitis media (HP:0000403)
neurosensory mild = mild neurosensory hearing loss (HP:0008587)
progressive = hearing loss, progressive (HP:0001730)
sensorineural = hearing loss, sensorineural (HP:0000407)
sensorineural bilateral = hearing loss, sensorineural, bilateral (HP:0008619)
sensorineural congenital = hearing loss, congenital sensorineural (HP:0008527)
sensorineural childhood onset = childhood onset sensorineural hearing loss (HP:0011474)
sensorineural infantile = infantile sensorineural hearing loss (HP:0008610)
sensorineural late = late sensorineural hearing loss (HP:0008615)
sensorineural moderate = moderate sensorineural hearing loss (HP:0008504)
sensorineural profound = profound sensorineural hearing loss (HP:0011476)
sensorineural severe = severe sensorineural hearing loss (HP:0008625)
sensorineural postlingual = postlingual sensorineural hearing loss (HP:0008596)
sensorineural prelingual = prelingual sensorineural hearing loss (HP:0000399)
sensorineural progressive = hearing loss, progressive sensorineural (HP:0000408)
normal = normal hearing
? = unknown
nr = not reported

Nose/Bridge: shape nasal bridge (please specify)
All options:

abnormal = abnormality nasal bridge (HP:0000422)
absent = absent nasal bridge (HP:0005285)
broad = broad (wide) nasal bridge (HP:0000431)
flat = flat (depressed/low) nasal bridge (HP:0005280)
high = high (prominent/elevated) nasal bridge (HP:0000426)
hypoplastic = hypoplastic nasal bridge (HP:0005281)
short = short nasal bridge (HP:0003194)
thin = thin (narrow) nasal bridge (HP:0000446)
normal = normal nasal bridge
? = unknown
nr = not reported

Nose/Alae: individual has abnormal nasal alae (please specify)
All options:

abnormal = abnormal nasal alae (HP:0000429)
normal = normal alae (-HP:0000463)
aplasia = aplastic alae
anteverted = anteverted nares (HP:0000463)
anteverted thin = thin anteverted nares (HP:0004495)
broad = broad nasal tip (HP:0000455)
cartilaginous = cartilaginous ossification nose (HP:0005275)
cleft = cleft alae (HP:0003191)
flared = flared alae (HP:0000454)
flat = flat alae (HP:0010649)
hypoplasia = hypoplastic alae (HP:0000430)
thick = thick alae (HP:0009928)
? = unknown
nr = not reported

Teeth/Anomalies: individual has anomalies teeth, please specify
All options:

amelogenesis imperfecta = amelogenesis imperfecta (HP:0000705)
cylindric = cylindric shape teeth
delayed = delayed eruption teeth (HP:0000684)
delayed permanent = delayed permanent teeth (HP:0000696)
delayed primary = delayed primary teeth (HP:0000680)
delayed loss = delayed loss primary teeth (HP:0006335)
hypoplasia = hypoplasia teeth (HP:0000685)
hypoplasia enamel = hypoplasia dental enamel (HP:0006297)
hypoplasia enamel general = generalized hypoplasia dental enamel (HP:0006282)
hypoplasia enamel local = localized hypoplasia dental enamel (HP:0011074)
hypoplasia teeth primary = hypoplasia primary teeth (HP:0006334)
hypoplasia tooth germ = hypoplasia tooth germ (HP:0006353)
irregular = irregular teeth (HP:0040079)
small = small teeth (HP:0000691)
spaced abnormal = abnormal spacing teeth (HP:0000692)
spaced variable = variabe spacing teeth (HP:0006316)
spaced wide = widely spaced teeth (HP:0000687)
spaced wide primary = widely spaced primary teeth (HP:0006313)
spaced wide front = widely spaced front teeth (HP:0006304)
yellow-brown = yellow-brown discoloration (HP:0006286)
- = normal teeth
? = unknown
nr = not reported

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

Brachydactyly: individual has brachydactyly, please specify
All options:

brachydactyly = brachydactyly (HP:000156)
brachytelomesophalangy = brachytelomesophalangy (HP:0005872)
short thumb = short thumb (HP:0009778)
short 5th finger = short 5th finger (HP:0009237)
short toe = short toe (HP:0001831)
short 3rd toe = short 3rd toe (HP:0005643)
brachydactyly-A = brachydactyly, type A (HP:0009370)
brachydactyly-A1 = brachydactyly, type A1 (HP:0009371)
brachydactyly-A2 = brachydactyly, type A2 (HP:0009372)
brachydactyly-B = brachydactyly, type B (HP:0005831
brachydactyly-C = brachydactyly, type C (HP:0009373)
brachydactyly-D = brachydactyly, type D (HP:0005627)
brachydactyly-E = brachydactyly, type E (HP:0005863)
brachydactyly unilateral = brachydactyly, unilateral (HP:0006008)
- = no brachydactyly
? = unknown
n/a = not analysed

Bone/Age: does the patient have an abnormal bone age (please specify)
All options:

accelerated = accelerated bone age (HP:0002805)
delayed = markedly delayed bone age (HP:0003799, +)
dysharmonic = dysharmonic bone age (HP:0200000)
dysharmonic accelerated = dysharmonic accelerated bone age (HP:0200001)
dysharmonic delayed = dysharmonic delayed bone age (HP:0005832)
maturation accelerated = accelerated skeletal maturation (HP:0005616)
maturation delayed = delayed skeletal maturation (HP:0002750)
- = normal bone age
? = unknown
n/a = not analysed

Teeth/Number: abnormal number of teeth
All options:

no = no abnormal number teeth (-HP:0006483)
abnormal = abnormal number teeth (HP:0006483)
number incisors = abnormal number incisors (HP:0011064)
number permanent teeth = abnormal number permanent teeth (HP:0011044)
increased = increased number teeth (HP:0011069)
mesiodens = mesiodens (HP:0011067)
supernumerary maxillary incisor = supernumerary maxillary incisor (HP:0006332)
reduced = reduced number teeth (HP:0009804)
single incisor = single median maxillary incisor (HP:0006315)
ageneis tooth selective = selective tooth agenesis (HP:0001592)
agenesis permanent = agenesis permanent teeth (HP:0006349)
agenesis canine = agenesis canine (HP:0012738)
agenesis incisor = agenesis of incisor (HP:0006485)
agenesis molar = agenesis molar (HP:0011051)
agenesis premolar = agenesis premolar (HP:0011054)
hypodontia = hypodontia (HP:0000668)
anodontia = anodontia (HP:0000674)
oligodontia = oligodontia (HP:0000677)
oligodontia primary = oligodontia primary teeth (HP:0012225)
? = unknown

Eye/Orbital: individual has abnormality orbital region (specify)
All options:

coloboma = coloboma (HP:0000589)
choroidal = choroidal coloboma (HP:0000611)
choroid bilateral = bilateral choroid coloboma (HP:0007956)
choroidoretinal = choroidoretinal coloboma (HP:0000567)
eyelid = eyelid coloboma (HP:0000625)
lower eyelid = lower eyelid coloboma (HP:0000652)
upper eyelid = upper eyelid coloboma (HP:0000636)
irido-fundal = irido-fundal coloboma (HP:0007748)
iris = iris coloboma (HP:0000612)
iris and retina = coloboma of iris and retina (HP:0007744)
lens = lens coloboma (HP:0100719)
macular = macular coloboma (HP:0001116)
ocular = ocular coloboma (HP:0000589)
optic disk (nerve) = optic disk (nerve) coloboma (HP:0000588)
retina = retinal coloboma (HP:0000480)
retinal bilateral = bilateral retinal coloboma (HP:0007808)
globe abnormality (HP:0100886)
cyclopia (HP:0009914)
deeply set eyes (HP:0000490)
hypertelorism (HP:0000316)
hypotelorism (HP:0000601)
proptosis (HP:0000520)
shallow orbits (HP:0000586)
vertical orbital dystopia (HP:0030867)
no = no abnormality
? = unknown
nr = not reported

Protein: result from protein staining

Head/Skull: individual has abnormal skull (specify)
All options:

abnormal skull (HP:0000929)
calvaria abnormal (HP:0002683)
calcaria thickened (HP:0002684)
calvaria thin (HP:0010539)
calvarial morphology abnormal
frontal region abnormal shape
frontal bone hypoplasia (HP:0005466)
frontal bossing (HP:0002007)
malar bones abnormal (HP:0012369)
malar flattening (HP:0000272)
malar prominence (HP:0010620)
normal skull (-HP:0000929)
? = unknown
nr = not reported

Calcification: individual has calcification(s), please specify
All options:

aorta = calcification aorta (HP:0004963)
basal ganglia = calcification basal ganglia (HP:0002135)
brain = brain/intracerebral/intracranial calcification (HP:0002514)
cartilage = calcification cartilage (HP:0100593)
choroid plexus = calcification choroid plexus calcification (HP:0006960)
liver = liver calcification (HP:0006559)
muscle = calcification muscles (HP:0100249)
pancreatic = pancreatic calcification (HP:0005213)
- = no calcifications
? = unknown
n/a = not analysed

Face/Cheeks: individual has abnormal cheeks (please specify)
All options:

abnormal = abnormality cheeks (HP:0004426)
full = full (chubby/puffy) cheeks (HP:0000293)
prominent = cheekbone prominence (HP:0012370)
sunken = sunken cheeks (HP:0009938)
underdeveloped = cheekbone underdevelopment (HP:0010669)
normal = normal cheeks
? = unknown
nr = not reported

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

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

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

Face/Shape: individual's shape of the face
All options:

asymmetric = asymmetric face (HP:0000324)
asymmetric crying = asymmetric crying face (HP:0011333)
broad = broad face (HP:0000283)
dysmorphic = dysmorphic face (HP:0001999)
flat = flat face (HP:0012368)
hypomimic = hypomimic face (HP:0000338)
large = large face (HP:0100729)
long = long face (HP:0000276)
myopatic = myopatic face (HP:0002058)
midface retrusion = midface retrusion (HP:0011800)
narrow = narrow face (HP:0000275)
oval = oval face (HP:0000300)
progeroid = progeroid face (HP:0005328)
prominent forehead = prominent forehead (HP:0011220)
no prominent forehead = no prominent forehead (-HP:0011220)
round = round face (HP:0000311)
short = short face (HP:0011219)
small = small face (HP:0000274
square = square face (HP:0000321)
triangular = triangular face (+ HP:0000325)
normal = normal face
? = unknown
nr = not reported
n/a = not analysed

Facial/Nose: abnormalities nose, shape (specify)
All options:

abnormality = abnormality nose (+, HP:0000366)
abnormality external = abnormality external nose (+, HP:00010938)
aplasia = aplasia nose (HP:0009927)
aplasia/hypoplasia = aplasia/hypoplasia nose (HP:0009924)
bifid = bifid nose (HP:0011803)
broad tip = broad nasal tip (HP:0000455)
bulbous = bulbous nose (HP:0000414)
large beaked = large beaked nose (HP:0003683)
long = long nose (HP:0003189)
midline defect = midline defect nose (HP:0004122)
narrow = narrow nose (HP:0000460)
normal = normal nose (-)
pear-shaped = pear-shaperd nose (HP:0000447)
prominent = prominent nose (HP:0000448)
short = short nose (HP:0003196)
slender = slender nose (HP:0000417)
wide = wide nose (HP:0000445)
? = unknown
nr = not reported

Hand_Feet/Abnormal: individual has abnormal hand or feet (specify)
All options:

finger long = long finger
finger long thumb = long thumb
finger long 2nd = long 2nd finger
finger long 3rd = long 3rd finger
finger long 4rd = long 4rd finger
finger long 5th = long 5th finger
finger small = small finger
finger short = short finger (HP:0009381)
finger short thumb = short thumb
finger short 2nd = short 2nd finger
finger short 3rd = short 3rd finger
finger short 4rd = short 4rd finger
finger short 5th = short 5th finger
metacapal short = short metacapal (HP:0010049)
metacapal short 1st = short 1st metacapal
metacapal short 2nd = short 2nd metacapal
metacapal short 3rd = short 3rd metacapal
metacapal short 4rd = short 4rd metacapal
metacapal short 5th = short 5th metacapal
metatarsal short = short metatarsal (HP:0010743)
metatarsal short 1st = short 1st metatarsal
metatarsal short 2nd = short 2nd metatarsal
metatarsal short 3rd = short 3rd metatarsal
metatarsal short 4rd = short 4rd metatarsal
metatarsal short 5th = short 5th metatarsal
toe absent = ansent toe (HP:0010760)
toe long hallux = long hallux (HP:0001847)
toe long 2nd = long 2nd toe
toe long 3rd = long 3rd toe
toe long 4rd = long 4rd toe
toe long 5th = long 5th toe
toe short = short toe (HP:0001831)
toe short hallux = short hallux
toe short 2nd = short 2nd toe
toe short 3rd = short 3rd toe
toe short 4rd = short 4rd toe
toe short 5th = short 5th toe
toe small = small toe (HP:0030031)
normal hand/feet
nr = not reported

Hair/Pigmentation: individual has abnormal pigmentation hair
All options:

normal = normal pigmentation hair (-HP:0009887)
abnormal = abnormal pigmentation hair (HP:0009887)
albinism = albinism (HP:0001022)
fair = fair hair (HP:0002286)
hypopigmentation = hypopigmentation (HP:0005599)
hypopigmentation general = general hypopigmentation (HP:0011358)
hypopigmentation patchy = patchy hypopigmentation (HP:0011365)
poliosis = poliosis (HP:0002290)
graying = premature graying (HP:0002216)
red = red hair (HP:0002297)
silver-gray = silver-gray hair (HP:0002218)
white = white hair (HP:0011364)
white forlock = white forlock (HP:0002211)
? = unknown
nr = not reported

Hormone: individual has hormone abnormality (specify)
All options:

ACTH+ = adrenocorticotropic hormone excess (HP:0011749)
ACTH- = adrenocorticotropic hormone deficiency (HP:0011748)
CRH- = corticotropin-releasing hormone deficiency (HP:0011737)
FSH+ = high follicle stimulating hormone (HP:0008232)
FSH- = low follicle stimulating hormone (HP:0030341)
GH+ = growth hormone excess (HP:0000845)
GH- = growth hormone deficiency (HP:0000824)
GNRH = hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
LH+ = high luteinizing hormone (HP:0011969)
LH- = low luteinizing hormone (HP:0030344)
PTH+c = high circulating parathyroid hormone (HP:0003165)
PTH+ = high parathyroid hormone, hyperparathyroidism (HP:0000843)
PTH- = low parathyroid hormone, hypoparathyroidism (HP:0000829)
PTHp = pseudohypoparathyroidism (HP:0000852)
TSH+ = thyroid-stimulating hormone excess (HP:0002925)
TSH- = TSH deficiency, pituitary hypothyroidism (HP:0008245)
TH resistance = pituitary resistance to thyroid hormone (HP:0008227)
- = normal
? = unknown
n/a = not analysed

Calcium: individual has abnormal calcium homeostasis (blood and/or urine)
All options:

hypercalcemia = hypercalcemia (HP:0003072)
hypercalcemia infantile = infantile hypercalcemia (HP:0008250)
hypercalciuria = hypercalciuria (HP:0002150)
hypercalcemia = hypercalcemia (HP:0003072)
hypocalcemia = hypocalcemia (HP:0002901)
hypocalcemic seizures = hypocalcemic seizures (HP:0002199)
hypocalcemic tetany = hypocalcemic tetany (HP:0003472)
hypocalciuria = hypocalciuria (HP:0003127)
reduced calcium/creatinine clearance = reduced ratio renal calcium/creatinine clearance (HP:0003513)
wasting = renal calcium wasting (HP:0012637)
- = normal calcium homeostasis
? = 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

Ion_Homeostasis: individual has abnormal ion homeostasis, please specify
All options:

cation = abnormal cation homeostasis (HP:0010929)
chloride = abnormal chloride homeostasis (HP:0011422)
hyperchloremia = hyperchloremia (HP:0011423)
hypochloremia = hypochloremia (HP:0003113)
sweat chloride = elevated sweat chloride (HP:0012236)
phosphate = abnormal phosphate homeostasis (HP:0100529)
hyperphosphatemia = hyperphosphatemia (HP:0002905)
hypophosphatemia = hypophosphatemia (HP:0002148)
hypophosphatemia renal= renal hypophosphatemia (HP:0008732)
hypophosphatemic rickets = hypophosphatemic rickets (HP:0004912)
hypophosphatemia transient= transient hypophosphatemia (HP:0008285)
plasma pyrophosphate = elevated plasma pyrophosphate (HP:0011864)
- = normal calcium homeostasis
? = unknown
n/a = not analysed

Neck: individual has abnormality neck
All options:

abnormality = abnormality neck (HP:0000464)
broad = broad neck (HP:0000475)
long = long neck (HP:0000472)
short = short neck (HP:0000470)
webbed = webbed neck (HP:0000465)
redundant skin = redundant neck skin (HP:0005989)
abnormality musculature = abnormality musculature neck (HP:0011006)
flexion limited = limited neck flexion (HP:0005991)
flexor weakness = flexor muscle weakness (HP:0003722)
limited range of motion = limited neck range of motion (HP:0000466)
motion limited = limitation of neck motion (HP:0005986)
muscle hypoplasia = neck muscle hypoplasia (HP:0008984)
muscle weakness = neck muscle weakness (HP:0000467)
adipose tissue decreased = decreased adipose tissue around neck (HP:0005995)
adipose tissue increased = increased adipose tissue around neck (HP:0000468)
normal = normal neck
? = unknown
n/a = not analysed

Weight: individual has abnormal weight (specify)
All options:

abnormal = abnormal body weight (HP:0004323)
decreased = decreased body weight (HP:0004325)
increased = increased body weight (HP:0004324)
BMI abnormal = abnormal BMI (HP:0045081)
BMI decreased = decreased BMI (HP:0045082)
BMI increased = increased BMI (HP:0031418)
obesity = obesity (HP:0001513)
abdominal = obesity, abdominal (HP:0012743)
truncal = obesity, truncal (HP:0001956)
truncal childhood = obesity, truncal, childhood-onset (HP:0008915)
overweight = overweight (HP:0025502)
- = no obesity (-HP:0001513)
? = unknown
nr = not reported

Ossification/Ectopic: individual has ossification, please specify
All options:

ectopic = ectopic ossification (HP:0011986)
ectopic ligament = ectopic ossification, ligament tissue (HP:0011989)
ectopic muscle = ectopic ossification, muscle tissue (HP:0011987)
ectopic tendon = ectopic ossification, tendon tissue (HP:0011988)
- = absent
? = unknown
n/a = not analysed

Bone/Density: individual has abnormal bone density, please specify
All options:

normal = normal bone mineral density
abnormal = abnormal bone mineral density (HP:0004348)
reduced = reduced bone mineral density (HP:0004349)
generalized demineralization = generalized bone demineralization (HP:0006462)
osteomalacia = osteomalacia (HP:0002749)
osteopenia = osteopenia (HP:0000938)
osteoporosis = osteoporosis (HP:0000939)
patchy reduced = patchy reduction bone mineral density (HP:0010657)
patchy variation = patchy variation bone mineral density (HP:0010659)
rickets = rickets (HP:0002748)
hypophosphatemic rickets = hypophosphatemic rickets (HP:0004912)
rickets lower limbs = rickets lower limbs (HP:0006463)
? = unknown
nr = not reported

Puberty: individual has precocious (early) or delayed puberty
All options:

+ = puberty, precocious (HP:0000826)
menstrual irregularities (HP:0000858)
abnormality menstrual cycle (HP:0000140)
amenorrhea (HP:0000141)
amenorrhea, primary (HP:0000786)
amenorrhea, secondary (HP:0000869)
delayed menarche (HP:0012569)
menometrorrhagia (HP:0400008)
menorrhagia (HP:0000132)
metrorrhagia (HP:0100608)
oligomenorrhea (HP:0000876)
polymenorrhea (HP:0400007)
dysmenorrhea (HP:0100607)
puberty, delayed (HP:0000823)
puberty, precocious (HP:0000826)
puberty, precocious, female (HP:0010456)
puberty, precocious, male (HP:0008185)
puberty, precocious, isosexual (HP:0008236)
puberty, precocious, with Sertoli cell tumor (HP:0008204)
- = normal onset puberty
? = unknown
nr = not reported

Reproduction/Abnormal/Physiology: individual has abnormality reproductive system physiology (please specify)
All options:

abnormal = abnormality reproductive system physiology (HP:0000080)
abnormality female = abnormality female reproductive system physiology (HP:0030012)
dysfunction sexual female = female sexual dysfunction (HP:0030014)
anorgasmia female = female anorgasmia (HP:0030015)
dyspareunia = dyspareunia (HP:0030016)
vaginismus = vaginismus (HP:0030017)
libido decreased female = decreased female libido (HP:0030018)
libido increased female = increased female libido (HP:0030019)
endometriosis = endometriosis (HP:0030127)
endometriosis cervical= cervical endometriosis (HP:0012889)
abnormality male = abnormality male reproductive system physiology (HP:0012874)
abnormality genitalia internal male = abnormality male internal genitalia (HP:0000025
dysfunction = male sexual dysfunction (HP:0040307)
libido decreased male = decreased male libido (HP:0040306)
libido increased male = increased male libido (HP:0040305)
anorgasmia male = male anorgasmia (HP:0040308)
ejaculation abnormal = abnormal ejaculation (HP:0012875)
ejaculation premature = premature ejaculation (HP:0012876)
ejaculation retrograde = retrograde ejaculation (HP:0012877)
ejaculation retarded = retarded ejaculation (HP:0012878)
anejaculation = anejaculation (HP:0012879)
impotence = impotence (HP:0000802)
fertility decreased = decreased fertility (HP:0000144)
fertility decreased female = decreased female fertility (HP:0000868)
fertility decreased male = decreased male fertility (HP:0012041)
infertility = infertility (HP:0000789)
infertility female = female infertility (HP:0008222)
infertility male = male infertility (HP:0003251)
hypogonadism = hypogonadism (HP:0000135)
hypogonadism male = male hypogonadism (HP:0000026)
hypogonadism hypogonadotrophic = hypogonadotrophic hypogonadism (HP:0000044)
hypogonadism female = female hypogonadism (HP:0000134)
hypogonadism hypergonadotropic = hypergonadotropic hypogonadism (HP:0000815)
normal = no abnormality (-HP:0000080)
? = unknown
nr = not reported

Testis/Abnormal: individual has abnormality testis, please specify
All options:

abnormal = abnormality testis (HP:0000035)
aplasia = aplasia testes (HP:0010469)
aplasia/hypoplasia = aplasia/hypoplasia testes (HP:0010468)
atrophy = testicular atrophy (HP:0000029)
cryptorchidism = cryptorchidism (HP:0000028)
cryptorchidism bilateral = bilateral cryptorchidism (HP:0008689)
cryptorchidism unilateral = unilateral cryptorchidism (HP:0012741)
dysgenesis = testicular dysgenesis (HP:0008715)
dysplastic = dysplastic testes (HP:0008733)
failure primary = primary testicular failure (HP:0008720)
hydrocele = hydrocele testis (HP:0000034)
Leydig cells abnormal = Leydig cells (HP:0010789)
Leydig cells hyperplasia = Leydig cells (HP:0010791)
Leydig cells hypoplasia = Leydig cells (HP:0010790)
macroorchidism = macroorchidism (HP:0000053)
macroorchidism congenital = congenital macroorchidism (HP:0008640)
macroorchidism postpubertal = postpubertal macroorchidism (HP:0002050)
microlithiasis = testicular microlithiasis (HP:0012215)
orchitis = orchitis (HP:0100796)
size decreased = decreased testicular size (HP:0008734)
supernumerary = supernumerary testes (HP:0010470)
torsion = testicular torsion (HP:0100813)
normal = normal testis
? = unknown
nr = not reported

Vitamin: individual has vitamin abnormality, please specify
All options:

vitamin metabolism = abnormal vitamin metabolism
vitamin A = vitamin A deficiency (HP:0004905)
vitamin A metabolism = abnormal vitamin A metabolism
vitamin B metabolism = abnormal vitamin-B metabolism
vitamin B1 = vitamin B1 deficiency (HP:0100503)
vitamin B12 = vitamin B12 deficiency (HP:0100502)
vitamin B12 metabolism = abnormal vitamin B12 metabolism
vitamin B2 = vitamin B2 deficiency (HP:0100504)
vitamin B3 = vitamin B3 deficiency (HP:0100497)
vitamin B3 metabolism = abnormal vitamin B3 metabolism
vitamin B5 = vitamin B5 deficiency (HP:0100505)
vitamin B6 = vitamin B6 deficiency (HP:0008326)
vitamin B8 = vitamin B8 deficiency (HP:0100506)
vitamin C = vitamin C deficiency (HP:0100510)
vitamin C metabolism = abnormal vitamin C metabolism
vitamin D = vitamin D deficiency (HP:0100512)
vitamin D metabolism = abnormal vitamin D metabolism
vitamin E = vitamin E deficiency (HP:0100513)
vitamin E metabolism = abnormal vitamin E metabolism
vitamin K = vitamin K deficiency (HP:0011892)
vitamin K metabolism = abnormal vitamin K metabolism
- = normal vitamin
? = 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'

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.

33 entries on 1 page. Showing entries 1 - 33.

Legend

How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Stature	Growth	Malformation/Genital	Thyroid/Dysfunction	Hearing/Loss	Nose/Bridge	Nose/Alae	Teeth/Anomalies	Scoliosis	Brachydactyly	Bone/Age	Teeth/Number	Eye/Orbital	Protein	Head/Skull	Calcification	Face/Cheeks	Development	Eye/Lens/Cataract	Eye/Movement	Face/Shape	Facial/Nose	Hand_Feet/Abnormal	Hair/Pigmentation	Hormone	Calcium	Intellectual_dis	Ion_Homeostasis	Neck	Weight	Ossification/Ectopic	Bone/Density	Puberty	Reproduction/Abnormal/Physiology	Testis/Abnormal	Vitamin	Owner	Individual ID
0000059623	hypospadias	-	-	Unknown	-	11y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00079987
0000059624	advanced bone age, caeliac disease, glucose intolerance with insulin resistance, severe peripheral dysostosis	-	-	Familial, autosomal dominant	-	08y	-	fmelli	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00079988
0000059625	IUGR, neonatal hypoglycemia, enamel dysplasia	-	-	Unknown	-	32y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00079989
0000059626	IUGR, neonatal hypoglycemia, gastroesophageal reflux, dysmorphic spines	-	-	Unknown	-	10y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00079990
0000059712	PTH resistance, TSH resistance, short stature, brachydactily, mental retardation, cone-shaped epiphyses, short neck, cafè-au-lait spots	-	-	Unknown	-	15y	-	fmelli	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080137
0000059714	short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, sensorineural hearing loss, short neck	-	-	Unknown	-	31y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080149
0000059715	TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, cone-shaped epiphyses	-	-	Unknown	-	11y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080150
0000059716	PTH resistance, short stature, brachydactily, cone-shaped epiphyses, FSH resistance	-	-	Unknown	-	31y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080151
0000059717	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, IUGR, cone-shaped epiphyses	-	-	Unknown	-	3,10y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080152
0000059719	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily	-	-	Unknown	-	12y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080154
0000059726	TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation	-	-	Unknown	-	3,9y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080161
0000059727	PTH resistance, short stature, brachydactily, cone-shaped epiphyses	-	-	Unknown	-	26y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080162
0000059728	PTH resistance, TSH resistance, brachydactily, cone-shaped epiphyses	-	-	Unknown	-	08y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080163
0000059729	PTH resistance3, Tsh resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses	-	-	Unknown	-	13y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080164
0000059730	PTH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses	-	-	Unknown	-	34y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080165
0000059731	PTH resistance, TSH resistance, short stature, brachydactily, IUGR, cone-shaped epiphyses	-	-	Unknown	-	22y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080166
0000059732	short stature, dysmorphic facies, brachydactily, mental retardation, moderate mixed hearing loss, congenital hypothyroidism, unilateral undescended testis	-	-	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080167
0000059733	short stature, dysmorphic facies, brachydactily, mental retardation	-	-	Unknown	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080168
0000059739	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, IUGR, cone-shaped epiphyses, advanced bone age	-	-	Unknown	-	03y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080174
0000059740	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, +1digit	-	-	Unknown	-	14y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080175
0000059741	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily	-	-	Unknown	-	24y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080176
0000059743	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance	-	-	Unknown	-	20,4y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080179
0000059744	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advaned bone age	-	-	Unknown	-	05y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080180
0000060263	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA	-	-	Unknown	-	24y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080691
0000060264	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance	-	-	Unknown	-	16y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080692
0000060265	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age	-	-	Unknown	-	11y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080693
0000060266	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, FSH resistance	-	-	Unknown	-	26y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080694
0000060267	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance	-	-	Unknown	-	13y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080695
0000060268	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, FSH resistance	-	-	Unknown	-	4,5y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080696
0000060269	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA	-	-	Unknown	-	11y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080697
0000060270	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, SGA	-	-	Unknown	-	8,6y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080698
0000060271	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, SGA	-	-	Unknown	-	12,6y	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Francesca Marta Elli	00080699
0000104275	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	Karina Silveira	00132070

Legend

How to query

Global Variome shared LOVD