GDACCF
MCID: GLB021
MIFTS: 38

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 56 73 36 6
Gdaccf 56 73
Developmental Disabilities 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies:
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 56 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, is also known as gdaccf, 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 coarse facial features

KEGG : 36 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF) is a syndromic intellectual disability with corpus callosum anomalies and short stature as shared features. It may be accompanied by microcephaly, feeding problems, and variable facial features. Truncating de novo mutations in the Kruppel-type zinc-finger gene ZNF148 have been reported in patients.

UniProtKB/Swiss-Prot : 73 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...

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:

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
poor speech
enlarged ventricles
absent corpus callosum
delayed psychomotor development
more
Growth Height:
short stature

Cardiovascular Heart:
patent ductus arteriosus
aortic coarctation
hypoplastic left heart syndrome
mitral valve stenosis
cardiac defects (in 2 of 4 patients)

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding

Head And Neck Ears:
abnormally shaped ears

Respiratory:
respiratory insufficiency, neonatal

Endocrine Features:
growth hormone deficiency (1 patient)

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

Head And Neck Mouth:
wide mouth

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

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

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 140)
# 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
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
5
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
6
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
7 Antibodies Phase 4
8 Rho(D) Immune Globulin Phase 4
9 Immunoglobulins, Intravenous Phase 4
10 gamma-Globulins Phase 4
11 Immunologic Factors Phase 4
12 Immunoglobulins Phase 4
13 Dopamine Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 abobotulinumtoxinA Phase 4
16 GABA Agonists Phase 4
17 Botulinum Toxins Phase 4
18 Botulinum Toxins, Type A Phase 4
19 Cholinergic Agents Phase 4
20 Adrenergic alpha-Agonists Phase 4
21 Adrenergic Agonists Phase 4
22 Central Nervous System Stimulants Phase 4
23 Anticonvulsants Phase 4
24
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
25
Cycloserine Approved Phase 3 68-41-7 401 6234
26
Histamine Approved, Investigational Phase 3 51-45-6 774
27
Mirtazapine Approved Phase 3 85650-52-8, 61337-67-5 4205
28
Aripiprazole Approved, Investigational Phase 3 129722-12-9 60795
29
Sodium citrate Approved, Investigational Phase 3 68-04-2
30
Caffeine Approved Phase 3 58-08-2 2519
31
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
32
Clozapine Approved Phase 3 5786-21-0 2818
33
Haloperidol Approved Phase 3 52-86-8 3559
34
Oxytocin Approved, Vet_approved Phase 3 50-56-6 53477758 439302
35
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
36
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
37
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
38 Dopamine Antagonists Phase 3
39 Psychotropic Drugs Phase 3
40 Antipsychotic Agents Phase 3
41 Anti-Infective Agents Phase 3
42 Antitubercular Agents Phase 3
43 Anti-Bacterial Agents Phase 3
44 Antibiotics, Antitubercular Phase 3
45 Antimetabolites Phase 3
46 Adrenergic alpha-Antagonists Phase 3
47 Antidepressive Agents Phase 3
48 Histamine Antagonists Phase 3
49 Histamine H1 Antagonists Phase 3
50
Histamine Phosphate Phase 3 51-74-1 65513

Interventional clinical trials:

(show top 50) (show all 259)
# 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 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
8 Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders Completed NCT01302964 Phase 3 Placebo;Mirtazapine
9 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
10 Pharmacotherapy of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
11 Supporting the Well Being of Families of Young Children With Autism Spectrum Completed NCT01021384 Phase 3
12 2/3 Treatment of Anxiety in Autism Spectrum Disorder Completed NCT02028247 Phase 3
13 Efficacy and Safety of Methylxanthines in Very Low Birthweight Infants Completed NCT00182312 Phase 3 Caffeine citrate injection
14 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
15 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
16 Effects of Risperidone on Cognitive-Motor Performance and Motor Movements in Chronically Medicated Children Completed NCT00399698 Phase 3 Risperdal
17 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
18 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
19 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Active, not recruiting NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
20 Randomized Double-Blind Trial of Low-Dose Naltrexone for Children With PDD Unknown status NCT00318162 Phase 1, Phase 2 low dose naltrexone
21 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)
22 Effect of Endermotherapy on Passive Ankle Range of Motion in Children With Developmental Disabilities Completed NCT01207570 Phase 2
23 Pharmacogenetics of Risperidone in Children With Pervasive Developmental Disorder (PDD) Completed NCT00166595 Phase 1, Phase 2 Risperidone
24 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
25 An Open-Label Study of Aripiprazole in Children and Adolescents With Autistic Disorder Completed NCT00198055 Phase 2 aripiprazole
26 Effects of Intensity of Early Communication Intervention Completed NCT00723151 Phase 2
27 Therapeutic Issues for Autism Spectrum Disorders: a Clinical Trial Completed NCT03887754 Phase 2 Risperidone;Non specific Multivitamin
28 A Pilot Study of Oral N-Acetylcysteine in Children With Autism Spectrum Disorders Completed NCT00453180 Phase 2 N-acetylcysteine;Placebo
29 An Investigation of the Efficacy in Childhood Obsessive-Compulsive Disorder of Riluzole: An Antiglutamatergic Agent Completed NCT00251303 Phase 2 Riluzole;Placebo
30 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)
31 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
32 An Open-Label Pilot Study of Lurasidone in Treating Antipsychotic Naive or Quasi-Naive Children and Adolescents Completed NCT01731119 Phase 2 Latuda©
33 CBT for Comorbid Anxiety Disorders in Children With Autism, Asperger Syndrome, or PDD-NOS Completed NCT00280670 Phase 2
34 CBT for Anxiety Disorders in Autism: Adapting Treatment for Adolescents Completed NCT01177969 Phase 1, Phase 2
35 Cholesterol in Autism Spectrum Disorder (ASD): Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
36 A Prospective Open-Label Trial of Aripiprazole Monotherapy in the Autism Spectrum Disorders (ASD) Completed NCT00308074 Phase 2 Aripiprazole
37 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
38 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)
39 An Investigation of the Efficacy of Mercury Chelation as a Treatment for Autism Spectrum Disorder Withdrawn NCT00376194 Phase 2 DMSA
40 An RCT of a Low-Intensity Intervention to Reduce Delay Unknown status NCT00110292 Phase 1
41 Neuronal Nicotinic Receptor Modulation in the Treatment of Autism: A Pilot Trial of Mecamylamine Completed NCT00773812 Phase 1 mecamylamine;placebo
42 Risperidone Pharmacokinetics in Children With Pervasive Developmental Disorder Completed NCT00147394 Phase 1 Risperidone
43 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
44 A Cognitive-Behavioral Intervention for Children With Autism Spectrum Disorders Completed NCT00926471 Phase 1
45 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
46 Cross-Species Multi-Modal Neuroimaging to Investigate GABA Physiology in Fragile X Syndrome Recruiting NCT04308954 Phase 1 [18F]flumazenil
47 Evaluation and Treatment of Copper/Zinc Imbalance in Children With Autism Terminated NCT00325572 Phase 1 oral zinc and vitamin C supplements
48 A Longitudinal Study of Function and Participation in Life Activities of Patients With Developmental Disabilities Unknown status NCT02930603
49 The System of Relationships Between Parents and Their Toddlers, With Eating Disorders and Sensory Processing Disorders Within Meal and Play Situations Unknown status NCT00531648
50 The Investigation of Children With Developmental Delay and Children's Rehabilitation Common Case: A Longitudinal Study Unknown status NCT02686931

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

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:

40
Brain, Testes, Kidney, Heart, Eye, Bone, Skin

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 4377)
# 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. 6 56
27964749 2016
2
Barriers to transition from pediatric to adult care for patients with Dravet syndrome: A focus group study of caregivers. 61
32422576 2020
3
Comparing Computer-Assisted and Teacher-Implemented Visual Matching Instruction for Children with ASD and/or Other DD. 61
30864058 2020
4
Application of a human mesoderm tissue elongation system in vitro derived from human induced pluripotent stem cells to risk assessment for teratogenic chemicals. 61
32092576 2020
5
Participation in Social Skills Therapy is Associated With Enhanced Recall Memory by Children With Down Syndrome: An Exploratory Study. 61
30961353 2020
6
Indigenous Australians with autism: A scoping review. 61
31928063 2020
7
Parental Age at Conception and the Relationship with Severity of Autism Symptoms. 61
31355686 2020
8
Factors predicting school staff's responsivity toward students with intellectual and developmental disability and complex communication needs. 61
32388042 2020
9
Psychometric Properties and Utility of the Social Vulnerability Questionnaire for Individuals with Intellectual and Developmental Disabilities. 61
29873017 2020
10
Teaching students with intellectual and developmental disabilities to calculate cost after discounts via schematic diagrams. 61
32388043 2020
11
Sleep, brains, and behavior across ten neurodevelopmental disorders: Introduction to the special issue on sleep in developmental disabilities. 61
32416554 2020
12
Prevalence of renewal of problem behavior: Replication and extension to an inpatient setting. 61
32578889 2020
13
Coping with caregiving: Humor styles and health outcomes among parents of children with disabilities. 61
32497974 2020
14
Predictors of Annual and Early Separations Among Direct Support Professionals: National Core Indicators Staff Stability Survey. 61
32484882 2020
15
They Care for Others, But What About Themselves? Understanding Self-Care Among DSPs' and Its Relationship to Professional Quality of Life. 61
32484886 2020
16
Long-term motor and cognitive function in the children of women with inflammatory bowel disease. 61
32497181 2020
17
A preliminary evaluation of still face images by deep learning: A potential screening test for childhood developmental disabilities. 61
32540607 2020
18
Parent survey of sleep problems among children with CHARGE syndrome. 61
32248059 2020
19
Perceptions of social support: comparisons between fathers of children with autism spectrum disorder and fathers of children without developmental disabilities. 61
31808233 2020
20
Barriers to and Facilitators of Successful Early School Transitions for Children with Autism Spectrum Disorders and Other Developmental Disabilities: A Systematic Review. 61
30806855 2020
21
A nurses' ethical commitment to people with intellectual and developmental disabilities. 61
32228209 2020
22
Empowerment in Polish fathers of children with autism and Down syndrome: the role of social support and coping with stress - a preliminary report. 61
31418969 2020
23
Estimated Prevalence of Asthma in US Children With Developmental Disabilities. 61
32543699 2020
24
Behavioral Approaches to Assessment and Early Intervention for Severe Problem Behavior in Intellectual and Developmental Disabilities. 61
32443989 2020
25
Sterilization of Men with Developmental Disabilities: A Historical Perspective and Modern Conundrum. 61
32209351 2020
26
Using telehealth to teach valued skills to adults with intellectual and developmental disabilities. 61
32542669 2020
27
Brief Report: Obesogenic Behaviors of Children with Developmental Disabilities During Summer. 61
32533383 2020
28
Use of complementary and alternative medicine treatments by mothers of children with developmental disabilities: a cross sectional study. 61
32362016 2020
29
Another Vision From the Coronavirus Health Crisis in Spain: The Perspective From the Plena inclusión Developmental Disabilities Associative Movement. 61
32563540 2020
30
The prevalence and health status of people with developmental disabilities in provincial prisons in Ontario, Canada: A retrospective cohort study. 61
32529696 2020
31
Reply to: Another Vision From the Coronavirus Health Crisis in Spain: The Perspective From the Plena inclusión Developmental Disabilities Associative Movement. 61
32563541 2020
32
Asian Immigrant Parents' Role Enactment While Accessing and Using Services for Their Child With Developmental Disabilities in the United States: A Meta-Synthesis Study. 61
32564671 2020
33
Corrigendum to 'The role of ADHD symptoms in the relationship between academic achievement and psychopathological symptoms' Research in Developmental Disabilities 97 (2020) 103552. 61
32565004 2020
34
From the DSP Perspective: Exploring the Use of Practices That Align With Trauma-Informed Care in Organizations Serving People With Intellectual and Developmental Disabilities. 61
32484883 2020
35
Cultivating Passion through Collaborative Art: A Dialogic Exploration of Disability, Storytelling, and Social Change. 61
30947540 2020
36
"I wouldn't know where to start": Perspectives from clinicians, agency leaders, and autistic adults on improving community mental health services for autistic adults. 61
31674198 2020
37
The Impact of Invisible Illness and Invisible Disability on Music Therapy Practica Students. 61
32201892 2020
38
Umbilical cord blood stem cell therapy in premature brain injury: Opportunities and challenges. 61
31797400 2020
39
Fetal alcohol spectrum disorders model alters the functionality of glutamatergic neurotransmission in adult zebrafish. 61
32173352 2020
40
Adaptation to Technology Use in Families of Children With Complex Communication Needs: An Integrative Review and Family Theory Application. 61
32389060 2020
41
Teledentistry: remote observation of patients with special needs. 61
32348247 2020
42
Editorial: Reducing Aggressive Episodes in Psychiatrically Hospitalized Children: Does Behavior Modification Work? 61
31655102 2020
43
Physical Activity and Sedentary Behavior Among U.S. Children With and Without Down Syndrome: The National Survey of Children's Health. 61
32357102 2020
44
Measurement invariance of the Positive Gains Scale in families of children with and without disabilities. 61
32438248 2020
45
Overt planning behaviors during writing in school-age children with autism spectrum disorder and attention-deficit/hyperactivity disorder. 61
32203886 2020
46
Examining the Role of Language in Play Among Children With and Without Developmental Disabilities. 61
32402229 2020
47
Attachment and child behaviour and emotional problems in autism spectrum disorder with intellectual disability. 61
31746131 2020
48
Seeing strengths: Young adults and their siblings with autism or intellectual disability. 61
31919930 2020
49
The Caregiver Health Effects of Caring for Young Children with Developmental Disabilities: A Meta-analysis. 61
32048172 2020
50
Improving Pediatric Hearing Testing for Children with Developmental Delays: The Effects of Video Modeling on Child Compliance and Caregiver Stress. 61
32516820 2020

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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF148 NM_021964.2(ZNF148):c.1628_1629CT[1] (p.Leu544fs)short repeat Pathogenic 807527 3:124951939-124951940 3:125233095-125233096
2 ZNF148 NM_021964.2(ZNF148):c.1792A>T (p.Lys598Ter)SNV Pathogenic 374842 rs1057519265 3:124951778-124951778 3:125232934-125232934
3 ZNF148 NM_021964.2(ZNF148):c.1583dup (p.Ser529fs)duplication Pathogenic 374843 rs1057519266 3:124951986-124951987 3:125233142-125233143
4 ZNF148 NM_021964.2(ZNF148):c.970dup (p.Ser324fs)duplication Pathogenic 374844 rs1057519267 3:124952599-124952600 3:125233755-125233756
5 ZNF148 NM_021964.2(ZNF148):c.1581_1582insC (p.Lys528fs)insertion Pathogenic 374845 rs1057519268 3:124951988-124951989 3:125233144-125233145
6 ZNF148 NM_021964.2(ZNF148):c.845A>G (p.Asp282Gly)SNV Likely pathogenic 807528 3:124952725-124952725 3:125233881-125233881
7 ZNF148 NM_001348424.1(ZNF148):c.2332_2333AG[1] (p.Arg778fs)short repeat Likely pathogenic 547906 rs1553802038 3:124951235-124951236 3:125232391-125232392
8 ZNF148 NM_021964.2(ZNF148):c.1504C>T (p.Gln502Ter)SNV Likely pathogenic 666563 3:124952066-124952066 3:125233222-125233222

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...

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

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