GDACCF
MCID: GLB021
MIFTS: 37

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 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 agenesis of corpus callosum

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

Symptoms via clinical synopsis from OMIM:

56
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

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 154)
# 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 Rho(D) Immune Globulin Phase 4
8 Antibodies Phase 4
9 Immunoglobulins Phase 4
10 gamma-Globulins Phase 4
11 Immunologic Factors Phase 4
12 Immunoglobulins, Intravenous Phase 4
13 Anticonvulsants Phase 4
14 Neurotransmitter Agents Phase 4
15 Dopamine Agents Phase 4
16 abobotulinumtoxinA Phase 4
17 Acetylcholine Release Inhibitors Phase 4
18 Neuromuscular Agents Phase 4
19 Cholinergic Agents Phase 4
20 Botulinum Toxins, Type A Phase 4
21 Botulinum Toxins Phase 4
22 Central Nervous System Depressants Phase 4
23 Tranquilizing Agents Phase 4
24 Psychotropic Drugs Phase 4
25 Central Nervous System Stimulants Phase 4
26 Adrenergic Agonists Phase 4
27 Adrenergic alpha-2 Receptor Agonists Phase 4
28 Dopamine Uptake Inhibitors Phase 4
29 GABA Agents Phase 4
30 Antimanic Agents Phase 4
31
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
32
Cycloserine Approved Phase 3 68-41-7 401 6234
33
Mirtazapine Approved Phase 3 85650-52-8, 61337-67-5 4205
34
Histamine Approved, Investigational Phase 3 51-45-6 774
35
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
36
Aripiprazole Approved, Investigational Phase 3 129722-12-9 60795
37
Sodium citrate Approved, Investigational Phase 3 68-04-2
38
Caffeine Approved Phase 3 58-08-2 2519
39
Haloperidol Approved Phase 3 52-86-8 3559
40
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
41
Clozapine Approved Phase 3 5786-21-0 2818
42
Oxytocin Approved, Vet_approved Phase 3 50-56-6 53477758 439302
43
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
44
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
45 Autonomic Agents Phase 3
46 Antipsychotic Agents Phase 3
47 Serotonin Agents Phase 3
48 Dopamine Antagonists Phase 3
49 Serotonin Antagonists Phase 3
50 Gastrointestinal Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 245)
# 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 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
8 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
9 Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders Completed NCT01302964 Phase 3 Placebo;Mirtazapine
10 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
11 Supporting the Well Being of Families of Young Children With Autism Spectrum Completed NCT01021384 Phase 3
12 Pharmacotherapy of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
13 2/3 Treatment of Anxiety in Autism Spectrum Disorder Completed NCT02028247 Phase 3
14 Efficacy and Safety of Methylxanthines in Very Low Birthweight Infants Completed NCT00182312 Phase 3 Caffeine citrate injection
15 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
16 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Completed NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
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 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
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 A Pilot Study of Oral N-Acetylcysteine in Children With Autism Spectrum Disorders Completed NCT00453180 Phase 2 N-acetylcysteine;Placebo
26 Effects of Intensity of Early Communication Intervention Completed NCT00723151 Phase 2
27 An Open-Label Study of Aripiprazole in Children and Adolescents With Autistic Disorder Completed NCT00198055 Phase 2 aripiprazole
28 Therapeutic Issues for Autism Spectrum Disorders: a Clinical Trial Completed NCT03887754 Phase 2 Risperidone;Non specific Multivitamin
29 An Open-Label Pilot Study of Lurasidone in Treating Antipsychotic Naive or Quasi-Naive Children and Adolescents Completed NCT01731119 Phase 2 Latuda©
30 CBT for Comorbid Anxiety Disorders in Children With Autism, Asperger Syndrome, or PDD-NOS Completed NCT00280670 Phase 2
31 An Investigation of the Efficacy in Childhood Obsessive-Compulsive Disorder of Riluzole: An Antiglutamatergic Agent Completed NCT00251303 Phase 2 Riluzole;Placebo
32 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)
33 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
34 CBT for Anxiety Disorders in Autism: Adapting Treatment for Adolescents Completed NCT01177969 Phase 1, Phase 2
35 A Prospective Open-Label Trial of Aripiprazole Monotherapy in the Autism Spectrum Disorders (ASD) Completed NCT00308074 Phase 2 Aripiprazole
36 Cholesterol in Autism Spectrum Disorder (ASD): Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
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 Evaluation and Treatment of Copper/Zinc Imbalance in Children With Autism Terminated NCT00325572 Phase 1 oral zinc and vitamin C supplements
47 A Longitudinal Study of Function and Participation in Life Activities of Patients With Developmental Disabilities Unknown status NCT02930603
48 The System of Relationships Between Parents and Their Toddlers, With Eating Disorders and Sensory Processing Disorders Within Meal and Play Situations Unknown status NCT00531648
49 The Investigation of Children With Developmental Delay and Children's Rehabilitation Common Case: A Longitudinal Study Unknown status NCT02686931
50 Prevelance of Molar Incisors Hypomineralization Among a Group of Egyptian Children Unknown status NCT03067064

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 4238)
# 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
Transition to Adult Care. 61
31760989 2020
3
Caregiving in the shadows: National analysis of health outcomes and intensity and duration of care among those who care for people with mental illness and for people with developmental disabilities. 61
31506219 2020
4
Concordance of the Vineland Adaptive Behavior Scales, second and third editions. 61
31657503 2020
5
Technology and social media use by adult patients with intellectual and/or developmental disabilities. 61
31582357 2020
6
Development and Validation of Equations to Link Pediatric Evaluation of Disability Inventory (PEDI) Functional Skills Scores to PEDI-Computer Adaptive Test Scores for Youth with Cerebral Palsy. 61
31203687 2020
7
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. 61
31729143 2020
8
Physical inactivity among parents of children with and without Down syndrome: the National Health Interview Survey. 61
31373080 2020
9
Dance Intervention for Mexican Family Caregivers of Children With Developmental Disability: A Pilot Study. 61
30947622 2020
10
White matter and neurodevelopmental disorders: honoring Jean De Vellis through the work of the NICHD-funded intellectual and developmental disabilities research centers. 61
31839009 2019
11
Psychological interventions in reducing stress, depression and anxiety among parents of children and adolescents with developmental disabilities: A systematic review and meta-analysis. 61
31359461 2019
12
A Description of Parent Input in IEP Development Through Analysis IEP Documents. 61
31751171 2019
13
Cross-Cultural Adaptation, Validity and Reliability of the Turkish Version of Assistance to Participate Scale. 61
31808173 2019
14
Caregiving of offspring with intellectual developmental disabilities in Israeli Jewish and Arab households: Financial and psychosocial differences. 61
31835166 2019
15
Case Management Workforce Supporting People With Intellectual and Developmental Disabilities: Indications of a New Frontier of the Workforce Crisis. 61
31751173 2019
16
Thinning Schedules of Reinforcement Following Functional Communication Training for Children with Intellectual and Developmental Disabilities: A Meta-analytic Review. 61
31456100 2019
17
Interprofessional team-based primary health care for adults with intellectual and developmental disabilities: a scoping review protocol. 61
31290791 2019
18
Self-determination in adolescents and adults with intellectual and developmental disabilities. 61
31833947 2019
19
Translating the Chronic Disease Self-Management Program for Community-Dwelling Adults With Developmental Disabilities. 61
31718414 2019
20
Assessing support needs in children with intellectual disability and motor impairments: measurement invariance and group differences. 61
31486142 2019
21
Feedback and Strategies From People With Intellectual Disability Completing a Personalized Online Weight Loss Intervention: A Qualitative Analysis. 61
31751170 2019
22
The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis. 61
31542590 2019
23
Premature mortality in children with developmental disabilities. 61
31653589 2019
24
Improving accepting and giving compliments with individuals with developmental disabilities. 61
31833057 2019
25
Brief Report: Psychometric Properties of the Ability in Behavior Assessment and Interventions for Teachers-Revised (ABAIT-R). 61
31797185 2019
26
Programing AAC just-in-time for beginning communicators: the process. 61
31790292 2019
27
Examining the Structure of a New Pediatric Measure of Functional Independence Using the interRAI Child and Youth Mental Health Assessment System. 61
31794276 2019
28
Umbilical cord blood stem cell therapy in premature brain injury: Opportunities and challenges. 61
31797400 2019
29
Heterogeneity in age at death for adults with developmental disability. 61
31313415 2019
30
Improving medication practices for persons with intellectual and developmental disability: Educating direct support staff using simulation, debriefing, and reflection. 61
28974141 2019
31
Race/Ethnicity-Resolved Time Trends in United States ASD Prevalence Estimates from IDEA and ADDM. 61
31435818 2019
32
Perceptions of social support: comparisons between fathers of children with autism spectrum disorder and fathers of children without developmental disabilities. 61
31808233 2019
33
Predictors of Trauma Exposure and Trauma Diagnoses for Children with Autism and Developmental Disorders Served in a Community Mental Health Clinic. 61
31838644 2019
34
Fathers of Youth with Autism Spectrum Disorder: A Systematic Review of the Impact of Fathers' Involvement on Youth, Families, and Intervention. 61
30929111 2019
35
Relative preferences for edible and leisure stimuli in children with autism: A replication in Italy. 61
31835275 2019
36
Scoping review protocol documenting cancer outcomes and inequalities for adults living with intellectual and/or developmental disabilities. 61
31685515 2019
37
Use of storytelling and audio podcasts in qualitative research. 61
31468898 2019
38
What is and isn't working: Factors involved in sustaining community-based health and participation initiatives for people ageing with intellectual and developmental disabilities. 61
31264333 2019
39
Behavioral analyses of animal models of intellectual and developmental disabilities. 61
31499164 2019
40
Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities. 61
31721002 2019
41
The impact of behavioural skills training on the knowledge, skills and well-being of front line staff in the intellectual disability sector: a clustered randomised control trial. 61
31106922 2019
42
Breaking tradition: Increasing physical activity and reducing sedentary time of children with developmental disabilities. 61
31776073 2019
43
Correlates of current caregiving among siblings of adults with intellectual and developmental disabilities. 61
31273891 2019
44
Responses to bullying among individuals with intellectual and developmental disabilities: Support needs and self-determination. 61
31273893 2019
45
Improving the quality of life of parents of children with developmental disabilities. 61
30980529 2019
46
Health coaching for parents of children with developmental disabilities: a systematic review. 61
30883717 2019
47
Diabetes self-care behaviors in adults with disabilities: A systematic review. 61
31691458 2019
48
Interpersonal capitalization moderates the associations of chronic caregiving stress and depression with inflammation. 61
31744782 2019
49
A comparison of curricula: Examining the efficacy of a school-based musical theater intervention. 61
31750754 2019
50
Play to Teach: Coaching Paraeducators to Facilitate Communication in the Preschool Classroom. 61
31756143 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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF148 NM_021964.2(ZNF148):c.1792A>T (p.Lys598Ter)SNV Pathogenic 374842 rs1057519265 3:124951778-124951778 3:125232934-125232934
2 ZNF148 NM_021964.2(ZNF148):c.1583dup (p.Ser529fs)duplication Pathogenic 374843 rs1057519266 3:124951987-124951987 3:125233143-125233143
3 ZNF148 NM_021964.2(ZNF148):c.970dup (p.Ser324fs)duplication Pathogenic 374844 rs1057519267 3:124952600-124952600 3:125233756-125233756
4 ZNF148 NM_021964.2(ZNF148):c.1581_1582insC (p.Lys528fs)insertion Pathogenic 374845 rs1057519268 3:124951988-124951989 3:125233144-125233145
5 ZNF148 NM_001348424.1(ZNF148):c.2332_2333AG[1] (p.Arg778fs)short repeat Likely pathogenic 547906 rs1553802038 3:124951235-124951236 3:125232391-125232392
6 ZNF148 NM_021964.2(ZNF148):c.1504C>Tundetermined variant Likely pathogenic 666563

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....