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Xp22.13CNV Type: Deletion


Largest CNV size: 9661 bp

Statistics Box:
Number of Reports: 7



Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Deletion
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Infantile spasms are associated with abnormal copy number variations.
Deletion
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bartnik_12_EP_discovery_cases
 102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
 102
 Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
 NA
 NA
 10000
 2
 0
 2
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 195159
 0
 1
 1
 napoli_17_ASD_discovery_cases
 Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
 133
 Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
 Mean, 6.7 3.0 years
 84.96% Male
 46000
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 9661
 1
 0
 1
 stobbe_13_ASD_discovery_cases
 Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012
 36
 Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.
 Range, 18-45 yrs. (mean 25.3 yrs.)
 77.78% Male
 288000
 0
 1
 1
 szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases
 Patients screened by chromosomal microrarray analysis (CMA) for Xp22.13 duplications involving the CDKL5 gene
 27000
 Cases with Xp22.13/CDKL5 duplications diagnosed with one or more of the following: ASD, ADHD, developmental delay (DD), intellectual disability (ID), OCD, sensory integration disorder
 N/A
 N/A
 935000
 0
 7
 7
 tiwari_12_EP_discovery_cases
 Patients with infantile spasms assessed at Wayne State University (Detroit, MI, USA)
 13
 Epilepsy (infantile spasms). Additional phenotypic features: developmental delay, autistic features, hypotonia/ataxia, and dysmorphic features.
 NA
 38.46% Male
 16827376
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 206070
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 143319
 5
 0
 5

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 bartnik_12_EP_discovery_cases
  Poland
 aCGH
  Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
 
 BCM web-based software, IMiD-web2py
 MLPA, PCR
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 napoli_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome 4x180K
 ADM-2
 Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
 RT-PCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 stobbe_13_ASD_discovery_cases
  N/A
 aCGH
  NimbleGen CGX-3v1.0
 ADM-1
 NimbleScan 2.5, DNA Analytics 4.0
 None
 szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases
  N/A
 aCGH
  V8.0 OLIGO, V8.1.1 OLIGO, V8.2 OLIGO HR+SNP, V8.3 OLIGO HR+SNP, 180K, V9.1.1 OLIGO HR+SNP, 400K (Medical Genetics Laboratories at Baylor College of Medicine/Agilent)
 
 
 FISH
 tiwari_12_EP_discovery_cases
  NA
 Solid phase hybridization
  Illumina 610Quad
 SVS
 Illumina BeadStudio, SVS
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  bartnik_12_EP_discovery_cases-case1
 NA
 F
 Epilepsy and intellectual disability
 Age of onset of epilepsy: 2 months. Seizure types/epilepsy syndrome: Refractory epilepsy with different types of seizures (generalized tonic-clonic seizures, tonic, myoclonic). Rett-like syndrome. Angelman-like phenotype. Microcephaly. Parental phenotype: normal.
 Profound intellectual disability
 18564194
 18564780
  587
 GRCh38
 Deletion
 Yes
  bartnik_12_EP_discovery_cases-case2
 NA
 F
 Epilepsy and autism
 Age of onset of epilepsy: 5 months. Seizure types/epilepsy syndrome: Refractory epilepsy with different types of seizures (focal, tonic). Rett-like syndrome. Parental phenotype: normal.
 Profound intellectual disability
 18614205
 18624968
  10764
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002520
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18643580
 18838741
  195162
 GRCh38
 Duplication
 Yes
  napoli_17_ASD_discovery_cases-case2
 N/A
 M
 ASD
 Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
 
 18130317
 18176037
  45721
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11375.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 115; verbal IQ, 93
 18041971
 18051632
  9662
 GRCh38
 Deletion
 No
  stobbe_13_ASD_discovery_cases-case6
 26 yrs.
 M
 Autism and epilepsy
 Family history: paternal grandmother with epilepsy. Karyotype: not performed. Fragile X testing: normal.
 
 17933995
 18222045
  288051
 GRCh38
 Duplication
 No
  szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case1
 13 yrs.
 M
 ADHD, OCD, DD
 Birth/neonatal history: former 28-week preemie. Language and communication evaluation: verbal language delay. Behavioral/psychiatric evaluation: autistic behavior, attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, history of behavioral problems. Additional medical history: hypertension treated with lisinopril. Growth parameters: short stature (takes growth hormones); head circumference of 55 cm (50th %ile). Family history: mother reported to have problems with reading and mathematics while at school and head circumference of 57 cm.
 Developmental delay, dyslexia
 18203417
 19138033
  934617
 GRCh38
 Duplication
 Yes
  szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case2
 6 yrs.
 F
 Developmental delay
 Language and communication evaluation: language delay. Behavioral/psychiatric evaluation: numerous behavioral problems including sadness, irritability, inability to get along with others, and taking things that did not belong to her. Sleep disturbances: jerks/twitches, snoring/breathing problems. Growth parameters: obesity; height and weight both >95th %ile at age of 4.5 years; macrocephaly. Family history: father unavailable for clinical evaluation.
 Developmental delay; done poorly in learning colors, numbers, and words
 18203417
 19138033
  934617
 GRCh38
 Duplication
 Yes
  szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case3
 9 yrs.
 M
 ASD, ADHD, ID
 Case diagnosed with Asperger syndrome, ADHD, and sensory integration disorder (based on DSM-IV criteria). Birth/neonatal history: born at 36 weeks with umbilical cord wrapped around his neck; experienced difficulty breathing and low Apgar scores. Developmental milestones: developmental regression around age of 1 year (had a few words and stopped speaking); gross motor delay consistent with sitting at 8 months and walking at 15 months. Language and communication evaluation: speech impairment; echolalia. Motor and musculoskeletal evaluation: trouble with fine motor skills, specifically with handwriting and using utensils to eat. Behavioral/psychiatric evaluation: presents with obsessive-compulsive and autistic behaviors; often flaps his hands; favors routines, patterns, lining things up, and does not like transitions; very argumentative, manifests oppositional behaviors, often gets aggressive with hitting other children and banging his own head; licks things, is sensitive to certain textures of foods, highly resistant to pain. EEG: normal. Brain imaging: normal head MRI. Dysmorphic features: mildly deeply placed eyes, mild frontal prominence, thin upper lips. Growth parameters: case is normocephalic. Family history: consistent for bipolar disorder in two maternal uncles, ADHD and learning disabilities in his brother and sister, depression in his maternal grandfather, and learning disabilities in his mother and maternal grandmother.
 Mild intellectual disability
 18349432
 19138033
  788602
 GRCh38
 Duplication
 No
  szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case4
 14 yrs.
 M
 Developmental delay
 Case met clinical diagnosis for Marfan syndrome at age of 13 years (tall stature, malar hypoplasia, pectus carinatum and excavatum, slight scoliosis, arachnodactyly, bilateral thumb and signs, hind foot deformities, and dilated aorta); parents have refused further genetic testing to confirm this diagnosis. Developmental milestones: walked at 18 months; first words at 2 years of age. Motor and musculoskeletal evaluation: problems with gross motor activity, difficulty writing for school work activities; mixed pectus deformity that does not require surgery, pes planus, hyperextensibility. Behavioral/psychiatric evaluation: seems to be always fatigues and is sometimes easily distracted; no diagnosis of ADHD has been made. Additional medical history: enlarged aorta; history of neuroblastoma of right adrenal gland. Dysmorphic features: facial asymmetry. Growth parameters: tall stature and macrocephaly; height >97th %ile, weight 90th-97th %ile, head circumference >2 SD (OFC 56 cm).
 Slightly delayed development; consistently performed at or above grade level (homeschooled), but had issues with becoming confused while performing multiple step tasks.
 18318580
 18858168
  539589
 GRCh38
 Duplication
 Yes
  szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case5
 6 yrs.
 M
 ASD, sensory integration disorder
 Diagnosis of Asperger syndrome and sensory integration disorder (based on DSM-IV criteria). Developmental milestones: normal gross motor milestones, but exhibits fine motor delay consistent with poor pencil grasp and difficulty with handwriting; mild speech delay and communication impairment. Language and communication evaluation: currently has large vocabulary with echolalia. Behavioral/psychiatric evaluation: hyperactivity, problems with social skills; pushes older children and bites his mother and father; hand flapping and stereotypic movements, as well as rocking body movements; sensitive to smells and textures of clothing; likes routines and is obsessed with doors; likes deep pressure and has sensory integration problems; on ADHD medications (Intuniv). Growth parameters: macrocephaly (54.5 cm, >95th %ile for age). Family history: adopted at age of 2 weeks; mother suspected to be on cocaine, marijuana, and antidepressants.
 
 18441952
 19083674
  641723
 GRCh38
 Duplication
 No
  szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case6
 8 yrs.
 F
 ASD, ID
 Diagnosis of autism, intellectual disability, and speech impairment (based on DSM-IV criteria). Birth/neonatal history: born by C-section secondary to breech presentation; mother had contractions at 6 months that resolved on their own. Developmental milestones: delayed head control, started to walk around 16 months of age. Language and communication evaluation: speech impairment, unable to speak in full sentences, vocabulary of about 30-40 words, has a lot of nonsensical words. Motor and musculoskeletal evaluation: fine motor delay consistent with handwriting difficulties. Behavioral/psychiatric evaluation: poor eye contact (possibly attributed to eye problems), poor social skills that have subsequently improved, does not like to share, hand flapping, inappropriate laughing, hyperactivity, autistic traits, likes to line things up and spin in circles, texture preference to foods consistent with sensory integration problems, likes routines and has repetitive behaviors. Brain imaging: brain MRI is significant for right tonsillar ectopia. Additional medical history: surgery for exotropia. Growth parameters: normocephalic. Family history: mother is reportedly healthy; family history is significant for a maternal cousin with probable intellectual disability.
 Intellectual disability; memory problems and some cognitive deficits
 18441952
 19083674
  641723
 GRCh38
 Duplication
 No
  szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case7
 8 yrs.
 F
 ASD, ID
 Case diagnosed with autistic spectrum disorder (ASD). Birth/neonatal history: 36-week uneventful pregnancy and labor, which was induced due to high blood pressure; birth weight of 6 lbs 11 oz; did not latch on and had a poor suck, but did gain weight with bottle feedings; feedings improved at 6 months of age. Developmental milestones: sitting at 1 year, walking at 2.5 years, talking at 2.5 years; no regression. Language and communication evaluation: speech therapy started at age of 3 years; low-pitched hoarse voice. Motor and musculoskeletal evaluation: poor muscle tone; index and fifth fingers with short tapering distal phalanges and mildly hypoplastic creases; neck with full range of motion. Behavioral/psychiatric evaluation: occasional defiance and aggression, which tended to occur when there were sudden changes to routine; strong need to maintain her order and routine; very frustrated and acts out when routine is changed; very rapid mood swings; engages in repetitive activities (stacking cups, flipping through pages of a book); finger-sucking and -chewing behaviors resulting in calluses, ear-picking behaviors resulting in bleeding; increased pain tolerance. Epilepsy/seizures: may have had a seizure with fever at age of 3.5 years (EEG was normal); no epileptic encephalopathy. Additional medical history: wears glasses for astigmatism. Dysmorphic features: brachycephaly, wide flattened face, mild frontal bossing, deeply set eyes, prominent ears with mild cupping, thin upper and out-pouched lower lip with inverted V shape to lips, accessory nipple bilaterally, cafe-au-lait spots, hypopigmented spots near each scapula. Growth parameters: weight of 33.5 kg (90th-95th %ile), height of 119.8 cm (10th %ile), BMI of 23.34 (>97th %ile), and OFC of 52.4 cm (normal). Family history: carrier mother is healthy; brother and maternal first cousin with schizophrenia and bipolar disorder; 4-generation pedigree otherwise unremarkable.
 Intellectual disability; functioning at about a 5.5 year levels with performance gaps; no learning plateau.
 18441951
 19076859
  634909
 GRCh38
 Duplication
 No
  tiwari_12_EP_discovery_cases-patient2
 2 yrs.
 F
 Epilepsy
 Age of onset of seizures: 1 months. EEG: multifocal spike and wave activity (at 2 years of age). Brain imaging: normal MRI/MRS; focal cortical hypometabolism on PET. Clinical characteristics and comorbidities: developmental delay, flattened nose and upturned nostrils, 2 hypopigmented spots..
 Developmental delay
 1844373
 1867174
  22801
 Unknown
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlHABC_902647_902647
  N/A
  N/A
  Control
  No previous psychiatric history
 
  18646752
  18852824
  206073
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11088.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  18472697
  18483808
  11112
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11839.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  19102450
  19108678
  6229
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12238.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  17176928
  17303986
  127059
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12497.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  17226199
  17369518
  143320
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12832.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  19102450
  19108678
  6229
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 bartnik_12_EP_discovery_cases-case1
 MLPA
 
 De novo
 
 
 CDKL5
 
 bartnik_12_EP_discovery_cases-case2
 MLPA and PCR
 
 De novo
 
 
 CDKL5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002520
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PPEF1-AS1,RS1,CDKL5,PPEF1
 
 napoli_17_ASD_discovery_cases-case2
 RT-PCR
 
 Unknown
 
 
 BEND2
 
 sanders_11_ASD_discovery_cases-11375.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 LINC01456
 
 stobbe_13_ASD_discovery_cases-case6
 
 
 Unknown
 Unknown (possible simplex)
 Unknown
 LINC01456,BEND2
 
 szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case1
 FISH
 Possible maternal
 Maternal
 Possible multi-generational
 Possibly segregated
 TMSB10P2,GJA6P,PPEF1-AS1,HAUS1P2,RN7SL48P,RS1,PHKA2-AS1,PHKA2,BEND2,SCML2,CDKL5,PPEF1,ADGRG2
 
 szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case2
 FISH
 
 Paternal
 Unknown
 Unknown
 TMSB10P2,GJA6P,PPEF1-AS1,HAUS1P2,RN7SL48P,RS1,PHKA2-AS1,PHKA2,BEND2,SCML2,CDKL5,PPEF1,ADGRG2
 
 szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case3
 
 
 Maternal
 Multi-generational
 Unknown
 GJA6P,PPEF1-AS1,HAUS1P2,RN7SL48P,RS1,PHKA2-AS1,PHKA2,SCML2,CDKL5,PPEF1,ADGRG2
 
 szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case4
 FISH
 
 Unknown
 Unknown
 Unknown
 TMSB10P2,GJA6P,PPEF1-AS1,RS1,SCML2,CDKL5,PPEF1
 
 szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case5
 
 
 Unknown
 Unknown
 Unknown
 GJA6P,PPEF1-AS1,HAUS1P2,RN7SL48P,RS1,PHKA2-AS1,PHKA2,CDKL5,PPEF1,ADGRG2
 
 szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case6
 
 
 Maternal
 Extended multiplex (maternal cousin with probable intellectual disability)
 Unknown
 GJA6P,PPEF1-AS1,HAUS1P2,RN7SL48P,RS1,PHKA2-AS1,PHKA2,CDKL5,PPEF1,ADGRG2
 
 szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case7
 
 
 Maternal
 Multiplex
 Unknown
 GJA6P,PPEF1-AS1,HAUS1P2,RN7SL48P,RS1,PHKA2-AS1,PHKA2,CDKL5,PPEF1,ADGRG2
 
 tiwari_12_EP_discovery_cases-patient2
 
 
 Maternal
 Unknown
 Unknown
 0 genes
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_902647_902647
 
 
  Unknown
 
 
  PPEF1-AS1,RS1,CDKL5,PPEF1
 
sanders_11_ASD_discovery_controls-11088.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CDKL5
 
sanders_11_ASD_discovery_controls-11839.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ADGRG2
 
sanders_11_ASD_discovery_controls-12238.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CBX1P4
 
sanders_11_ASD_discovery_controls-12497.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CBX1P4
 
sanders_11_ASD_discovery_controls-12832.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ADGRG2
 

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