PKS
MCID: PLL008
MIFTS: 41

Pallister-Killian Syndrome (PKS)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pallister-Killian Syndrome

MalaCards integrated aliases for Pallister-Killian Syndrome:

Name: Pallister-Killian Syndrome 57 74 43 58 29 13 71
Isochromosome 12p Syndrome 57 43 58
Tetrasomy 12p, Mosaic 57 20 43
Pks 57 20 43
Pallister-Killian Mosaic Syndrome 20 43
Chromosome 12, Isochromosome 12p Syndrome 20
Killian Teschler-Nicola Syndrome 20
Teschler-Nicola Killian Syndrome 20
Teschler-Nicola/killian Syndrome 43
Isochromosome 12p Mosaicism 58
Pallister Killian Syndrome 20
Pallister Mosaic Syndrome 20
Killian Syndrome 20
Tetrasomy 12p 58

Characteristics:

Orphanet epidemiological data:

58
tetrasomy 12p
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
somatic mosaicism

Miscellaneous:
significant number of patients are stillborn or die in neonatal period
birth incidence approximately 5.1 per million live births


HPO:

31
pallister-killian syndrome:
Onset and clinical course stillbirth
Inheritance somatic mosaicism


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Pallister-Killian Syndrome

MedlinePlus Genetics : 43 Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.Most babies with Pallister-Killian mosaic syndrome are born with significant hypotonia, which can cause difficulty breathing and problems with feeding. Hypotonia also interferes with the normal development of motor skills such as sitting, standing, and walking. About 30 percent of affected individuals are ultimately able to walk without assistance. Additional developmental delays result from intellectual disability, which is usually severe to profound. Speech is often limited or absent in people with this condition.Pallister-Killian mosaic syndrome is associated with a distinctive facial appearance that is often described as "coarse." Characteristic facial features include a high, rounded forehead; a broad nasal bridge; a short nose; widely spaced eyes; low-set ears; rounded cheeks; and a wide mouth with a thin upper lip and a large tongue. Some affected children are born with an opening in the roof of the mouth (cleft palate) or a high arched palate.Most children with Pallister-Killian mosaic syndrome have sparse hair on their heads, particularly around the temples. These areas may fill in as affected children get older. Many affected individuals also have streaks or patches of skin that are darker or lighter than the surrounding skin. These skin changes can occur anywhere on the body, and they may be apparent at birth or occur later in life.Additional features of Pallister-Killian mosaic syndrome can include hearing loss, vision impairment, seizures, extra nipples, genital abnormalities, and heart defects. Affected individuals may also have skeletal abnormalities such as extra fingers and/or toes, large big toes (halluces), and unusually short arms and legs. About 40 percent of affected infants are born with a congenital diaphragmatic hernia, which is a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm). This potentially serious birth defect allows the stomach and intestines to move into the chest, where they can crowd the developing heart and lungs.The signs and symptoms of Pallister-Killian mosaic syndrome vary, although most people with this disorder have severe to profound intellectual disability and other serious health problems. The most severe cases involve birth defects that are life-threatening in early infancy. However, several affected people have had milder features, including mild intellectual disability and less noticeable physical abnormalities.

MalaCards based summary : Pallister-Killian Syndrome, also known as isochromosome 12p syndrome, is related to hypotonia and alacrima, achalasia, and mental retardation syndrome, and has symptoms including seizures An important gene associated with Pallister-Killian Syndrome is ARAF (A-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Glucose / Energy Metabolism and mTOR signaling pathway (KEGG). Affiliated tissues include skin, heart and tongue, and related phenotypes are ptosis and short neck

GARD : 20 Pallister-Killian mosaic syndrome is a multi-system disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. The signs and symptoms of Pallister-Killian mosaic syndrome can vary, although most documented cases of people with the syndrome have severe to profound intellectual disability and other serious health problems. Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome 12 called isochromosome 12p. An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms. Cells normally have two copies of each chromosome, one inherited from each parent. In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. These cells have a total of four copies of all the genes on the p arm of chromosome 12. The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder. Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases. Treatment depends upon the specific symptoms present in each individual. Treating medical and developmental problems early can help to optimize outcome.

OMIM® : 57 Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987). (601803) (Updated 05-Mar-2021)

Wikipedia : 74 Pallister-Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an... more...

Related Diseases for Pallister-Killian Syndrome

Diseases related to Pallister-Killian Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 hypotonia 10.8
2 alacrima, achalasia, and mental retardation syndrome 10.7
3 diaphragmatic hernia, congenital 10.7
4 polyhydramnios 10.7
5 alopecia 10.7
6 chromosomal triplication 10.6
7 cleft palate, isolated 10.6
8 chromosome 12p duplication 10.5
9 hypertelorism 10.5
10 overgrowth syndrome 10.5
11 fryns syndrome 10.4
12 polydactyly 10.4
13 47,xyy 10.4
14 seizure disorder 10.4
15 macroglossia 10.4
16 down syndrome 10.4
17 anus, imperforate 10.4
18 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.4
19 sensorineural hearing loss 10.4
20 polymicrogyria 10.4
21 dowling-degos disease 1 10.3
22 hydrops fetalis, nonimmune 10.3
23 macrostomia, isolated 10.3
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
25 west syndrome 10.3
26 omphalocele 10.3
27 hydronephrosis 10.3
28 fetal macrosomia 10.3
29 tetrasomy 21 10.3
30 cerebral atrophy 10.3
31 ring chromosome 10.3
32 anorectal anomalies 10.1
33 atrial standstill 1 10.1
34 cat eye syndrome 10.1
35 laryngomalacia 10.1
36 meckel diverticulum 10.1
37 nondisjunction 10.1
38 nevus, epidermal 10.1
39 telecanthus 10.1
40 tetralogy of fallot 10.1
41 volvulus of midgut 10.1
42 retinitis pigmentosa 11 10.1
43 branchiootic syndrome 1 10.1
44 tetrasomy 18p 10.1
45 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
46 cortical dysplasia, complex, with other brain malformations 10 10.1
47 chromosomal disease 10.1
48 dilated cardiomyopathy 10.1
49 ventricular septal defect 10.1
50 status epilepticus 10.1

Graphical network of the top 20 diseases related to Pallister-Killian Syndrome:



Diseases related to Pallister-Killian Syndrome

Symptoms & Phenotypes for Pallister-Killian Syndrome

Human phenotypes related to Pallister-Killian Syndrome:

58 31 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
6 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
7 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
8 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
9 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
10 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
11 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
12 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
13 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
14 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
15 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
16 thick upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000215
17 hypotonia 31 hallmark (90%) HP:0001252
18 sparse and thin eyebrow 31 hallmark (90%) HP:0000535
19 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
20 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
21 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
22 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
23 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
24 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
25 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
26 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
27 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
28 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
29 abnormal soft palate morphology 31 occasional (7.5%) HP:0100736
30 macrocephaly 31 HP:0000256
31 muscular hypotonia 58 Very frequent (99-80%)
32 macroglossia 31 HP:0000158
33 hearing impairment 31 HP:0000365
34 cataract 31 HP:0000518
35 depressed nasal bridge 31 HP:0005280
36 inguinal hernia 31 HP:0000023
37 macrotia 31 HP:0000400
38 wide nasal bridge 31 HP:0000431
39 umbilical hernia 31 HP:0001537
40 hypertonia 31 HP:0001276
41 flexion contracture 31 HP:0001371
42 full cheeks 31 HP:0000293
43 cryptorchidism 31 HP:0000028
44 micrognathia 31 HP:0000347
45 webbed neck 31 HP:0000465
46 obesity 31 HP:0001513
47 epicanthus 31 HP:0000286
48 myopia 31 HP:0000545
49 atrial septal defect 31 HP:0001631
50 coarctation of aorta 31 HP:0001680

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
profound mental retardation (in some patients)
hypotonia (newborn)
hypertonia (older children and adolescents)
more
Head And Neck Neck:
short neck
webbed neck

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias
small scrotum

Head And Neck Nose:
short nose
anteverted nostrils
flat, broad nasal root

Head And Neck Face:
full cheeks
micrognathia
long philtrum
coarse facial features over time

Skin Nails Hair Skin:
hypohidrosis
anhidrosis
hypopigmented streaks
hyperpigmented streaks
transverse palmar creases

Cardiovascular Heart:
atrial septal defect
hypertrophic cardiomyopathy
ventricular septal defect
aortic stenosis
pericardial agenesis

Skeletal Spine:
kyphoscoliosis
sacral appendage

Cardiovascular Vascular:
patent ductus arteriosus
coarctation of the aorta

Skeletal Limbs:
mesomelic/rhizomelic limb shortening
hypermobile joints
contractures develop with age

Skeletal Hands:
postaxial polydactyly
fifth finger clinodactyly
short fingers
transverse palmar creases
broad hands
more
Chest Breasts:
accessory nipples

Head And Neck Ears:
deafness
large ears
external auditory canal stenosis
protruding lobules

Respiratory Lung:
lung hypoplasia

Chest Diaphragm:
diaphragmatic hernia

Genitourinary:
persistence of urogenital sinus/cloaca

Laboratory Abnormalities:
mosaic tetrasomy 12p in skin fibroblasts
isochromosome often missing in lymphocyte

Head And Neck Eyes:
ptosis
hypertelorism
strabismus
myopia
sparse eyelashes
more
Head And Neck Mouth:
macroglossia
cleft palate
bifid uvula
thin upper lip
protruding lower lip
more
Abdomen External Features:
umbilical hernia
omphalocele

Head And Neck Head:
prominent forehead
normal to increased head circumference
postnatal deceleration of head circumference

Genitourinary Internal Genitalia Male:
cryptorchidism

Growth Weight:
obesity
normal to increased birth weight

Skeletal Pelvis:
congenital hip dislocation

Abdomen Gastrointestinal:
anal atresia
intestinal malrotation
anteriorly placed anus
feeding difficulties
anal stenosis
more
Skin Nails Hair Hair:
sparse eyelashes
sparse anterior scalp hair
sparse eyebrows

Respiratory:
hyperventilation

Skeletal Feet:
postaxial polydactyly
broad feet
short toes

Head And Neck Teeth:
delayed dental eruption

Genitourinary Kidneys:
dysplastic kidneys
cystic kidneys

Genitourinary Internal Genitalia Female:
absent uterus
absent upper vagina

Growth Height:
normal to increased birth length
postnatal deceleration of length

Genitourinary External Genitalia Female:
hypoplasia of labia majora

Clinical features from OMIM®:

601803 (Updated 05-Mar-2021)

UMLS symptoms related to Pallister-Killian Syndrome:


seizures

GenomeRNAi Phenotypes related to Pallister-Killian Syndrome according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.6 TBX5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.6 GMPS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.6 GMPS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.6 GMPS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.6 GMPS
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.6 GMPS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.6 GMPS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 GMPS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.6 GMPS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.6 GMPS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.6 GMPS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.6 GMPS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.6 GMPS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.6 GMPS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.6 TBX5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.6 TBX5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-84 9.6 GMPS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.6 GMPS TBX5

Drugs & Therapeutics for Pallister-Killian Syndrome

Search Clinical Trials , NIH Clinical Center for Pallister-Killian Syndrome

Genetic Tests for Pallister-Killian Syndrome

Genetic tests related to Pallister-Killian Syndrome:

# Genetic test Affiliating Genes
1 Pallister-Killian Syndrome 29

Anatomical Context for Pallister-Killian Syndrome

MalaCards organs/tissues related to Pallister-Killian Syndrome:

40
Skin, Heart, Tongue, Uterus, Lung, Brain, Pineal

Publications for Pallister-Killian Syndrome

Articles related to Pallister-Killian Syndrome:

(show top 50) (show all 211)
# Title Authors PMID Year
1
Pallister-Killian syndrome: Review of fetal phenotype. 61 57
29790157 2019
2
Pallister-Killian syndrome: a study of 22 British patients. 61 57
25888713 2015
3
Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p. 61 57
19215056 2009
4
Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p. 57 61
19215037 2009
5
Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. 61 57
12476459 2003
6
Tissue-limited mosaicism in Pallister-Killian syndrome -- a case in point. 61 57
12082482 2002
7
Pallister-Killian syndrome: case report with pineal tumor. 57 61
11074499 2000
8
Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection. 57 61
9295085 1997
9
Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome. 61 57
9056554 1997
10
New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization. 61 57
8418650 1993
11
Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome). 57 61
1536171 1992
12
Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization. 61 57
1789295 1991
13
Tetrasomy 12p (Pallister-Killian syndrome). 61 57
2002482 1991
14
Prenatal diagnosis of Pallister-Killian syndrome. 57 61
1692181 1990
15
Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome. 57 61
2807276 1989
16
Pallister-Killian syndrome: cytogenetic and molecular studies. 57 61
2887316 1987
17
The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. 61 57
4028501 1985
18
Isochromosome 12p-positive pineal germ cell tumor. 57
8137260 1994
19
Mosaicism in Pallister i(12p) syndrome. 57
2333883 1990
20
Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases. 57
3605213 1987
21
Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis. 61
33229101 2021
22
[Prenatal diagnosis of a fetus with Pallister-Killian syndrome with combined cytogenetic and molecular methods]. 61
33179239 2020
23
A Novel Case of Tethered Cord in a Five-Month-Old Male With Pallister-Killian Syndrome. 61
33269168 2020
24
Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients. 61
32714624 2020
25
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism. 61
32903844 2020
26
[Prenatal diagnosis of a case of Pallister-Killian syndrome]. 61
32619262 2020
27
The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome. 61
32350887 2020
28
Hypotonic infant with Pallister-Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations. 61
32482921 2020
29
Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature. 61
31454185 2019
30
Ductus Venosus Agenesis as a Marker of Pallister-Killian Syndrome. 61
31311125 2019
31
Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome. 61
31178275 2019
32
Prenatal diagnosis of Pallister-Killian syndrome. 61
30125405 2019
33
[Combined chromosomal microarray analysis and fluorescence in situ hybridization for prenatal diagnosis of two cases with Pallister-Killian syndrome]. 61
31055807 2019
34
Prenatal detection of right aortic arch. 61
30706183 2019
35
Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome. 61
30430791 2019
36
Pallister-Killian Syndrome: The Diagnosis is in the Detail. 61
30517961 2019
37
Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples. 61
31497069 2019
38
Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines. 61
30933946 2019
39
Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis. 61
30289601 2018
40
Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester. 61
30342660 2018
41
For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome. 61
30371035 2018
42
Neuroimaging findings in Pallister-Killian syndrome. 61
29260614 2018
43
Prenatal diagnosis of Pallister-Killian syndrome in one twin. 61
30147884 2018
44
Progressive subglottic stenosis in a child with Pallister-Killian syndrome. 61
28745802 2018
45
[Prenatally diagnosed case of Pallister‒Killian syndrome]. 61
29779390 2018
46
[Application of single nucleotide polymorphism microarray and fluorescence in situ hybridization analysis for the prenatal diagnosis of a case with Pallister-Killian syndrome]. 61
29652999 2018
47
[Pallister-Killian syndrome in a Mexican mestizo patient. Case report]. 61
29333839 2018
48
Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos. 61
28661575 2018
49
Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases. 61
30140312 2018
50
A review of structural brain abnormalities in Pallister-Killian syndrome. 61
29222831 2018

Variations for Pallister-Killian Syndrome

Expression for Pallister-Killian Syndrome

Search GEO for disease gene expression data for Pallister-Killian Syndrome.

Pathways for Pallister-Killian Syndrome

Pathways related to Pallister-Killian Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.45 IGFBP2 GMPS
2
Show member pathways
11.09 ATP6V1G1 ARAF

GO Terms for Pallister-Killian Syndrome

Sources for Pallister-Killian Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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