GDACCF
MCID: GLB021
MIFTS: 51

Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies (GDACCF)

Categories: Genetic diseases

Aliases & Classifications for Global Developmental Delay, Absent or Hypoplastic Corpus...

MalaCards integrated aliases for Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:

Name: Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 57 74 6
Developmental Disabilities 44 72
Gdaccf 57 74
Developmental Disability 17

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation
four unrelated patients have been reported (last curated december 2016)


HPO:

32
global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617260
MeSH 44 D002658
UMLS 72 C0008073

Summaries for Global Developmental Delay, Absent or Hypoplastic Corpus...

OMIM : 57 GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016). (617260)

MalaCards based summary : Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies, also known as developmental disabilities, is related to short stature, brachydactyly, intellectual developmental disability, and seizures and autism, and has symptoms including symptoms An important gene associated with Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies is ZNF148 (Zinc Finger Protein 148). The drugs Dopamine and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and kidney, and related phenotypes are growth hormone deficiency and agenesis of corpus callosum

UniProtKB/Swiss-Prot : 74 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies: An autosomal dominant syndrome characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and intellectual disability, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations.

Related Diseases for Global Developmental Delay, Absent or Hypoplastic Corpus...

Diseases related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 330)
# Related Disease Score Top Affiliating Genes
1 short stature, brachydactyly, intellectual developmental disability, and seizures 12.5
2 autism 11.4
3 fragile x syndrome 11.3
4 speech and communication disorders 11.2
5 angelman syndrome 11.2
6 fanconi anemia, complementation group a 11.2
7 chromosome 15q13.3 deletion syndrome 11.2
8 trichothiodystrophy 4, nonphotosensitive 11.0
9 trichothiodystrophy 1, photosensitive 11.0
10 trichothiodystrophy 2, photosensitive 11.0
11 trichothiodystrophy 3, photosensitive 11.0
12 kleefstra syndrome 11.0
13 coffin-siris syndrome 1 10.9
14 floating-harbor syndrome 10.9
15 wolf-hirschhorn syndrome 10.9
16 costello syndrome 10.9
17 muscular dystrophy-dystroglycanopathy , type a, 4 10.9
18 rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked 10.9
19 trichothiodystrophy 5, nonphotosensitive 10.9
20 warburg micro syndrome 1 10.9
21 acrodysostosis 2 with or without hormone resistance 10.9
22 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 10.9
23 trichothiodystrophy 6, nonphotosensitive 10.9
24 congenital heart defects and ectodermal dysplasia 10.9
25 spinocerebellar ataxia 47 10.9
26 periventricular nodular heterotopia 8 10.9
27 walker-warburg syndrome 10.9
28 cdkl5 deficiency disorder 10.9
29 9q22.3 microdeletion 10.9
30 autism spectrum disorder 10.7
31 alacrima, achalasia, and mental retardation syndrome 10.7
32 cerebral palsy 10.7
33 down syndrome 10.6
34 pervasive developmental disorder 10.4
35 seizure disorder 10.3
36 attention deficit-hyperactivity disorder 10.3
37 learning disability 10.3
38 visual epilepsy 10.3
39 disease of mental health 10.2
40 aging 10.2
41 anxiety 10.2
42 gastroesophageal reflux 10.2
43 psychotic disorder 10.2
44 substance abuse 10.2
45 sleep disorder 10.2
46 rett syndrome 10.1
47 yemenite deaf-blind hypopigmentation syndrome 10.1
48 branchiootic syndrome 1 10.1
49 epilepsy 10.1
50 mood disorder 10.1

Graphical network of the top 20 diseases related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:



Diseases related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies

Symptoms & Phenotypes for Global Developmental Delay, Absent or Hypoplastic Corpus...

Human phenotypes related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 growth hormone deficiency 32 occasional (7.5%) HP:0000824
2 agenesis of corpus callosum 32 HP:0001274
3 frontal bossing 32 HP:0002007
4 intellectual disability 32 HP:0001249
5 respiratory insufficiency 32 HP:0002093
6 coarse facial features 32 HP:0000280
7 global developmental delay 32 HP:0001263
8 pes planus 32 HP:0001763
9 microcephaly 32 HP:0000252
10 smooth philtrum 32 HP:0000319
11 short stature 32 HP:0004322
12 generalized hypotonia 32 HP:0001290
13 feeding difficulties 32 HP:0011968
14 patent ductus arteriosus 32 HP:0001643
15 epicanthus 32 HP:0000286
16 coarctation of aorta 32 HP:0001680
17 hypoplastic left heart 32 HP:0004383
18 abnormality of the pinna 32 HP:0000377
19 ventriculomegaly 32 HP:0002119
20 talipes equinovarus 32 HP:0001762
21 telecanthus 32 HP:0000506
22 wide mouth 32 HP:0000154
23 downslanted palpebral fissures 32 HP:0000494
24 upslanted palpebral fissure 32 HP:0000582
25 pointed chin 32 HP:0000307
26 triangular face 32 HP:0000325
27 hypoplasia of the corpus callosum 32 HP:0002079
28 mitral stenosis 32 HP:0001718
29 renal cyst 32 HP:0000107
30 short palpebral fissure 32 HP:0012745
31 poor speech 32 HP:0002465
32 renal dysplasia 32 HP:0000110
33 hypermetropia 32 HP:0000540
34 low hanging columella 32 HP:0009765
35 delayed ability to walk 32 HP:0031936

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
smooth philtrum
pointed chin
triangular face
coarse face

Growth Height:
short stature

Head And Neck Eyes:
telecanthus
downslanting palpebral fissures
epicanthal folds
hyperopia
short palpebral fissures
more
Skeletal Feet:
flat feet
club feet

Abdomen Gastrointestinal:
poor feeding

Head And Neck Ears:
abnormally shaped ears

Respiratory:
respiratory insufficiency, neonatal

Endocrine Features:
growth hormone deficiency (1 patient)

Neurologic Central Nervous System:
intellectual disability
poor speech
enlarged ventricles
absent corpus callosum
delayed psychomotor development
more
Cardiovascular Heart:
patent ductus arteriosus
aortic coarctation
hypoplastic left heart syndrome
mitral valve stenosis
cardiac defects (in 2 of 4 patients)

Head And Neck Mouth:
wide mouth

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
prominent columella

Growth Other:
poor overall growth

Head And Neck Head:
microcephaly (in 1 of 4 patients)

Genitourinary Kidneys:
cystic kidneys (in 2 of 4 patients)
dysplastic kidneys (in 2 of 4 patients)

Clinical features from OMIM:

617260

UMLS symptoms related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:


symptoms

MGI Mouse Phenotypes related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 JAG1 NIPBL OFD1 PTPN11 ZNF148
2 craniofacial MP:0005382 9.67 JAG1 NIPBL OFD1 PTPN11
3 embryo MP:0005380 9.65 JAG1 NIPBL OFD1 PTPN11 ZNF148
4 growth/size/body region MP:0005378 9.63 FOXL2 JAG1 NIPBL OFD1 PTPN11 ZNF148
5 digestive/alimentary MP:0005381 9.62 JAG1 OFD1 PTPN11 ZNF148
6 hearing/vestibular/ear MP:0005377 9.13 JAG1 NIPBL PTPN11
7 normal MP:0002873 9.02 FOXL2 JAG1 NIPBL PTPN11 ZNF148

Drugs & Therapeutics for Global Developmental Delay, Absent or Hypoplastic Corpus...

Drugs for Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 168)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
3
Baclofen Approved Phase 4 1134-47-0 2284
4
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
5
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
6
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
7 Immunologic Factors Phase 4
8 gamma-Globulins Phase 4
9 Antibodies Phase 4
10 Immunoglobulins Phase 4
11 Immunoglobulins, Intravenous Phase 4
12 Rho(D) Immune Globulin Phase 4
13 Anticonvulsants Phase 4
14 Neurotransmitter Agents Phase 4
15 Dopamine Agents Phase 4
16 Peripheral Nervous System Agents Phase 4
17 abobotulinumtoxinA Phase 4
18 Cholinergic Agents Phase 4
19 Neuromuscular Agents Phase 4
20 Acetylcholine Release Inhibitors Phase 4
21 Botulinum Toxins Phase 4
22 Botulinum Toxins, Type A Phase 4
23 Central Nervous System Depressants Phase 4
24 Psychotropic Drugs Phase 4
25 Tranquilizing Agents Phase 4
26 Central Nervous System Stimulants Phase 4
27 GABA Agents Phase 4
28 Neurotransmitter Uptake Inhibitors Phase 4
29 Adrenergic alpha-2 Receptor Agonists Phase 4
30 Adrenergic alpha-Agonists Phase 4
31 Adrenergic Agonists Phase 4
32 Antimanic Agents Phase 4
33 Dopamine Uptake Inhibitors Phase 4
34
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
35
Cycloserine Approved Phase 3 68-41-7 6234 401
36
Mirtazapine Approved Phase 3 61337-67-5, 85650-52-8 4205
37
Histamine Approved, Investigational Phase 3 51-45-6 774
38
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
39
Aripiprazole Approved, Investigational Phase 3 129722-12-9 60795
40
Sodium citrate Approved, Investigational Phase 3 68-04-2
41
Caffeine Approved Phase 3 58-08-2 2519
42
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
43
Clozapine Approved Phase 3 5786-21-0 2818
44
Haloperidol Approved Phase 3 52-86-8 3559
45
Oxytocin Approved, Vet_approved Phase 3 50-56-6 439302 53477758
46
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
47
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
48 Autonomic Agents Phase 3
49 Serotonin Antagonists Phase 3
50 Serotonin Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 264)
# Name Status NCT ID Phase Drugs
1 A Phase IV, Single-site, Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4 Gammaplex 5%
2 Vanderbilt University Spasticity Management Program Evaluation Plan Completed NCT00179114 Phase 4 Botulinum Toxin Type A;Intrathecal baclofen administered by the Medtronic SyncroMed(TM) pump (ITB)
3 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
4 Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population Completed NCT00207935 Phase 4
5 Methylphenidate Study in Young Children With Developmental Disorders Completed NCT00517504 Phase 4 Methylphenidate
6 Group Psychoeducational Program for Mothers of Preschool Children With High Functional Pervasive Developmental Disorders: a Randomized Controlled Trial Unknown status NCT01243905 Phase 2, Phase 3
7 Clinical and Cost Effectiveness of Staff Training in Positive Behaviour Support (PBS) for Treating Challenging Behaviour in People With Intellectual Disability: A Cluster Randomised Controlled Trial Unknown status NCT01680276 Phase 3
8 2/3 Treatment of Anxiety in Autism Spectrum Disorder Completed NCT02028247 Phase 3
9 Multicenter Double-blind Placebo-Controlled Randomized Clinical Trial of Efficacy and Safety of Tenoten for Children in the Treatment of Specific Developmental Disorders of Scholastic Skills in Children Completed NCT03159104 Phase 3 Tenoten for children;Placebo
10 A Randomized, Placebo-Controlled Trial of D-Cycloserine for the Enhancement of Social Skills Training in Pervasive Developmental Disorders Completed NCT01086475 Phase 3 D-cycloserine;Placebo
11 Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders Completed NCT01302964 Phase 3 Placebo;Mirtazapine
12 Efficacy And Safety Of Risperidone In The Treatment Of Children With Autistic Disorder And Other Pervasive Developmental Disorders: A Canadian, Multicenter, Double-Blind, Placebo-Controlled Study Completed NCT00261508 Phase 3 risperidone
13 Supporting the Well Being of Families of Young Children With Autism Spectrum Completed NCT01021384 Phase 3
14 Pharmacotherapy of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
15 Efficacy and Safety of Methylxanthines in Very Low Birthweight Infants Completed NCT00182312 Phase 3 Caffeine citrate injection
16 Severe Aberrant Behavior Among Persons With Mental Retardation. Project III: Behavioral Selectivity of Atypical Neuroleptic Drugs: Effects on Cognitive and Social Behaviors Completed NCT00065273 Phase 3 risperidone;clozapine;olanzapine
17 Effects of Risperidone on Cognitive-Motor Performance and Motor Movements in Chronically Medicated Children Completed NCT00399698 Phase 3 Risperdal
18 A Randomized Controlled Trial Pilot Project to Evaluate the Efficacy of Melatonin in Children With Insomnia, Intractable Epilepsy and Neurodevelopmental Disabilities Completed NCT01161108 Phase 3 Fast Release Melatonin (FR MLT);Fast Release Placebo;Timed Release Melatonin (TR MLT);Timed Release Placebo
19 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Completed NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
20 A Pilot Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder Active, not recruiting NCT02985749 Phase 3 Intranasal Oxytocin
21 Randomized Double-Blind Trial of Low-Dose Naltrexone for Children With PDD Unknown status NCT00318162 Phase 1, Phase 2 low dose naltrexone
22 A Randomized, Placebo-Controlled Phase II Trial Evaluating Safety and Efficacy of Oral Human Immunoglobulin in the Treatment of Gastrointestinal Dysfunction Associated With Autistic Disorder in Pediatric Patients From 2 to 18 Years of Age Unknown status NCT00110708 Phase 2 Oralgam (human immunoglobulin)
23 Effect of Endermotherapy on Passive Ankle Range of Motion in Children With Developmental Disabilities Completed NCT01207570 Phase 2
24 Pharmacogenetics of Risperidone in Children With Pervasive Developmental Disorder (PDD) Completed NCT00166595 Phase 1, Phase 2 Risperidone
25 Pilot Study of Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 2 Acamprosate
26 A Phase II, Randomized, Double-blind, Placebo-controlled Study of Myrosinase-enriched Glucoraphanin, a Sulforaphane Precursor System, in Autism Spectrum Disorder Completed NCT02909959 Phase 2 Sulforaphane;Placebo
27 Therapeutic Issues for Autism Spectrum Disorders: a Clinical Trial Completed NCT03887754 Phase 2 Risperidone;Non specific Multivitamin
28 Effects of Intensity of Early Communication Intervention Completed NCT00723151 Phase 2
29 A Pilot Study of Oral N-Acetylcysteine in Children With Autism Spectrum Disorders Completed NCT00453180 Phase 2 N-acetylcysteine;Placebo
30 An Open-Label Study of Aripiprazole in Children and Adolescents With Autistic Disorder Completed NCT00198055 Phase 2 aripiprazole
31 CBT for Comorbid Anxiety Disorders in Children With Autism, Asperger Syndrome, or PDD-NOS Completed NCT00280670 Phase 2
32 An Open-Label Pilot Study of Lurasidone in Treating Antipsychotic Naive or Quasi-Naive Children and Adolescents Completed NCT01731119 Phase 2 Latuda©
33 An Investigation of the Efficacy in Childhood Obsessive-Compulsive Disorder of Riluzole: An Antiglutamatergic Agent Completed NCT00251303 Phase 2 Riluzole;Placebo
34 An Open-Label Study of the Safety and Tolerability of Memantine in Pediatric Patients With Autism, Asperger's Disorder, or Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) Completed NCT01592786 Phase 2 Memantine Hydrochloride (HCl)
35 A Double-Blind, Placebo-Controlled, Randomized Withdrawal Study of the Safety and Efficacy of Memantine in Pediatric Patients With Autism, Asperger's Disorder, or Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) Previously Treated With Memantine Completed NCT01592747 Phase 2 Memantine Hydrochloride (HCl);Memantine Hydrochloride (HCl);Placebo capsules
36 Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT02019667 Phase 2 SGS-742;Placebo
37 CBT for Anxiety Disorders in Autism: Adapting Treatment for Adolescents Completed NCT01177969 Phase 1, Phase 2
38 A Prospective Open-Label Trial of Aripiprazole Monotherapy in the Autism Spectrum Disorders (ASD) Completed NCT00308074 Phase 2 Aripiprazole
39 Cholesterol in Autism Spectrum Disorder (ASD): Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
40 A Pilot/Feasibility Study of the Use of High Dose Propranolol to Treat Severe and Chronic Challenging Behaviors in Adolescents and Adults With Autism Spectrum Disorders Recruiting NCT04047355 Phase 2 Propranolol
41 Evaluation of the Efficacy of Allogeneic Umbilical Cord Derived Hematopoietic Stem Cells and Mesenchymal Stromal Cells in Patients With Spastic Cerebral Palsy on Developmental Function , A Clinical Trial phase2 Active, not recruiting NCT03795974 Phase 2
42 An Open-Label Extension Study of the Safety and Tolerability of Memantine in Pediatric Patients With Autism, Asperger's Disorder, or Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) Terminated NCT01592773 Phase 2 Memantine Hydrochloride (HCl)
43 An Investigation of the Efficacy of Mercury Chelation as a Treatment for Autism Spectrum Disorder Withdrawn NCT00376194 Phase 2 DMSA
44 An RCT of a Low-Intensity Intervention to Reduce Delay Unknown status NCT00110292 Phase 1
45 Neuronal Nicotinic Receptor Modulation in the Treatment of Autism: A Pilot Trial of Mecamylamine Completed NCT00773812 Phase 1 mecamylamine;placebo
46 Risperidone Pharmacokinetics in Children With Pervasive Developmental Disorder Completed NCT00147394 Phase 1 Risperidone
47 A Cognitive-Behavioral Intervention for Children With Autism Spectrum Disorders Completed NCT00926471 Phase 1
48 The Connection Between Sensory Deprivation and Social Withdrawal in Clients of a Long Term Care Facility Living With Alzheimer's Disease and the Effects of a Snoezelen Program. Completed NCT00548951 Phase 1
49 A Phase One Treatment Trial of the Circadian Sleep Disturbance in Smith-Magenis Syndrome (SMS) Completed NCT00506259 Phase 1 dTR Melatonin (NIH CC PDS);Melatonin CR
50 Evaluation and Treatment of Copper/Zinc Imbalance in Children With Autism Terminated NCT00325572 Phase 1 oral zinc and vitamin C supplements

Search NIH Clinical Center for Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies

Cochrane evidence based reviews: developmental disabilities

Genetic Tests for Global Developmental Delay, Absent or Hypoplastic Corpus...

Anatomical Context for Global Developmental Delay, Absent or Hypoplastic Corpus...

MalaCards organs/tissues related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:

41
Brain, Testes, Kidney, Heart, Bone, Eye, Liver

Publications for Global Developmental Delay, Absent or Hypoplastic Corpus...

Articles related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:

(show top 50) (show all 4228)
# Title Authors PMID Year
1
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. 8 71
27964749 2016
2
Secretin is an ineffective treatment for pervasive developmental disabilities: a review of 15 double-blind randomized controlled trials. 9 38
15590241 2005
3
Distribution of FMR1 and FMR2 alleles in Javanese individuals with developmental disability and confirmation of a specific AGG-interruption pattern in Asian populations. 9 38
11427173 2001
4
Neuronal ceroid lipofuscinoses: classification and diagnosis. 9 38
11332767 2001
5
Neuronal ceroid lipofuscinoses: research update. 9 38
11073228 2000
6
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. 9 38
10638050 1999
7
Fragile X syndrome (review). 9 38
10341296 1999
8
Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities. 9 38
8844096 1996
9
Features of employment-related technology for people with intellectual and developmental disabilities: A thematic analysis. 38
30983097 2019
10
A family systems perspective on supporting self-determination in young adults with intellectual and developmental disabilities. 38
30993822 2019
11
Neighborhood Context and the Risk for Developmental Disabilities in Early Childhood. 38
31209617 2019
12
Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments. 38
31206741 2019
13
Playing with a Stacked Deck: Literature Review and Case Series of Problem Gambling in Adults with Intellectual and Developmental Disabilities. 38
30673928 2019
14
Siblings of adults with intellectual and developmental disabilities: Their knowledge and perspectives on guardianship and its alternatives. 38
30990247 2019
15
Domains of planning for future long-term care of adults with intellectual and developmental disabilities: Parent and sibling perspectives. 38
31012229 2019
16
"I Didn't Need People's Negative Thoughts": Women With Intellectual and Developmental Disabilities Reporting Attitudes Toward Their Pregnancy. 38
30602298 2019
17
Getting by with a little help from my friends: siblings report on the amount of informal support received by adults with disabilities. 38
31037774 2019
18
Human Cytomegalovirus Disruption of Calcium Signaling in Neural Progenitor Cells and Organoids. 38
31217241 2019
19
KCNQ2 related early-onset epileptic encephalopathies in Chinese children. 38
31152295 2019
20
Effects of intervention intensity on skill acquisition and task persistence in children with Down syndrome. 38
31066178 2019
21
Preliminary investigation of visual attention to complex AAC visual scene displays in individuals with and without developmental disabilities. 38
31305160 2019
22
The Relationship Between Disability Prejudice and Institutionalization of People With Intellectual and Developmental Disabilities. 38
31373544 2019
23
Interactions of High School Students With Intellectual and Developmental Disabilities in Inclusive Classrooms. 38
31373547 2019
24
Fostering disability advocates: A framework for training future leaders through interprofessional education. 38
31380679 2019
25
Investigating a Participation-Based Friendship Intervention for Youth with Disabilities: Effects on Goal Attainment, Social Self-Efficacy, and Engagement. 38
31409191 2019
26
Exploring health and wellness among Native American adults with intellectual and/or developmental disabilities and their family caregivers. 38
31436363 2019
27
The Impact of Medicaid Managed Care on Health Service Utilization Among Adults With Intellectual and Developmental Disabilities. 38
31373550 2019
28
Shining the Light on Mental Health in a Population at Risk: Cerebral Palsy and Other Developmental Disabilities. 38
31382274 2019
29
Impact of the HealthMatters Train-the-Trainer Program on the Health and Health Behaviors of Staff Supporting Adults With Intellectual and Developmental Disabilities. 38
31366306 2019
30
Impact of the HealthMatters Train-the-Trainer Program on the Health and Health Behaviors of Staff Supporting Adults With Intellectual and Developmental Disabilities. 38
31007138 2019
31
The pursuit of the magic pill: the overuse of psychotropic medications in children with intellectual and developmental disabilities in the USA. 38
30353794 2019
32
Skin picking disorder in 97 Italian and Spanish Cri du chat patients. 38
31187941 2019
33
Toilet training of preschoolers with disabilities: The perspectives of teacher aides. 38
31141212 2019
34
Empowerment in Polish fathers of children with autism and Down syndrome: the role of social support and coping with stress - a preliminary report. 38
31418969 2019
35
Physical inactivity among parents of children with and without Down syndrome: the National Health Interview Survey. 38
31373080 2019
36
Serious game-based intervention for children with developmental disabilities. 38
31393252 2019
37
Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. 38
31074943 2019
38
Services for adults with intellectual disability in Aotearoa New Zealand. 38
31385950 2019
39
The contemporary view of intellectual and developmental disabilities: Implications for psychologists. 38
31292035 2019
40
Race/Ethnicity-Resolved Time Trends in United States ASD Prevalence Estimates from IDEA and ADDM. 38
31435818 2019
41
The Effects of Systematic Instruction in Teaching Multistep Social-Communication Skills to Children with Autism Spectrum Disorder Using an iPad. 38
31030583 2019
42
Do Animals Perceive Human Developmental Disabilities? Guinea Pigs' Behaviour with Children with Autism Spectrum Disorders and Children with Typical Development. A Pilot Study. 38
31382429 2019
43
Antipsychotic initiation among adults with intellectual and developmental disabilities in Ontario: a population-based cohort study. 38
31366646 2019
44
Correlates of current caregiving among siblings of adults with intellectual and developmental disabilities. 38
31273891 2019
45
Responses to bullying among individuals with intellectual and developmental disabilities: Support needs and self-determination. 38
31273893 2019
46
Assessing preferences of individuals with developmental disabilities using alternative stimulus modalities: A systematic review. 38
31045241 2019
47
The effects of different mastery criteria on the skill maintenance of children with developmental disabilities. 38
31155708 2019
48
Context influences preference for and level of physical activity of adolescents with intellectual and developmental disabilities. 38
31161604 2019
49
Improving procedural fidelity of behavioural interventions for people with intellectual and developmental disabilities: A systematic review. 38
30968529 2019
50
Construct Validity and Test-Retest Reliability of the Coping Inventory (CI) for Children With Developmental Disabilities. 38
31318674 2019

Variations for Global Developmental Delay, Absent or Hypoplastic Corpus...

ClinVar genetic disease variations for Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ZNF148 NM_021964.2(ZNF148): c.1792A> T (p.Lys598Ter) single nucleotide variant Pathogenic rs1057519265 3:124951778-124951778 3:125232934-125232934
2 ZNF148 NM_021964.2(ZNF148): c.1583dup (p.Ser529fs) duplication Pathogenic rs1057519266 3:124951987-124951987 3:125233143-125233143
3 ZNF148 NM_021964.2(ZNF148): c.970dup (p.Ser324fs) duplication Pathogenic rs1057519267 3:124952600-124952600 3:125233756-125233756
4 ZNF148 NM_021964.2(ZNF148): c.1581_1582insC (p.Lys528fs) insertion Pathogenic rs1057519268 3:124951988-124951989 3:125233144-125233145
5 ZNF148 NM_021964.2(ZNF148): c.2332_2333AG[1] (p.Arg778fs) short repeat Likely pathogenic rs1553802038 3:124951235-124951236 3:125232391-125232392

Expression for Global Developmental Delay, Absent or Hypoplastic Corpus...

Search GEO for disease gene expression data for Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies.

Pathways for Global Developmental Delay, Absent or Hypoplastic Corpus...

GO Terms for Global Developmental Delay, Absent or Hypoplastic Corpus...

Biological processes related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.46 ZNF148 NIPBL JAG1 FOXL2
2 negative regulation of transcription, DNA-templated GO:0045892 9.43 ZNF148 NIPBL FOXL2
3 animal organ morphogenesis GO:0009887 9.32 JAG1 FGD1
4 inner ear development GO:0048839 8.96 PTPN11 JAG1
5 face morphogenesis GO:0060325 8.62 PTPN11 NIPBL

Sources for Global Developmental Delay, Absent or Hypoplastic Corpus...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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