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 Immunoglobulins Phase 4
8 Antibodies Phase 4
9 Immunologic Factors Phase 4
10 Rho(D) Immune Globulin Phase 4
11 Immunoglobulins, Intravenous Phase 4
12 gamma-Globulins Phase 4
13 Anticonvulsants Phase 4
14 Neurotransmitter Agents Phase 4
15 Dopamine Agents Phase 4
16 Acetylcholine Release Inhibitors Phase 4
17 Neuromuscular Agents Phase 4
18 Botulinum Toxins Phase 4
19 abobotulinumtoxinA Phase 4
20 Cholinergic Agents Phase 4
21 Botulinum Toxins, Type A Phase 4
22 Central Nervous System Depressants Phase 4
23 Tranquilizing Agents Phase 4
24 Psychotropic Drugs Phase 4
25 GABA Agents Phase 4
26 Dopamine Uptake Inhibitors Phase 4
27 Adrenergic alpha-2 Receptor Agonists Phase 4
28 Central Nervous System Stimulants Phase 4
29 Adrenergic Agonists 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
Haloperidol Approved Phase 3 52-86-8 3559
38
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
39
Clozapine Approved Phase 3 5786-21-0 2818
40
Sodium citrate Approved, Investigational Phase 3 68-04-2
41
Caffeine Approved Phase 3 58-08-2 2519
42
Oxytocin Approved, Vet_approved Phase 3 50-56-6 439302 53477758
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 Gastrointestinal Agents Phase 3
47 Serotonin Agents Phase 3
48 Dopamine Antagonists Phase 3
49 Antipsychotic Agents Phase 3
50 Serotonin Antagonists 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 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 Efficacy and Safety of Methylxanthines in Very Low Birthweight Infants Completed NCT00182312 Phase 3 Caffeine citrate injection
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 An Open-Label Study of Aripiprazole in Children and Adolescents With Autistic Disorder Completed NCT00198055 Phase 2 aripiprazole
26 Therapeutic Issues for Autism Spectrum Disorders: a Clinical Trial Completed NCT03887754 Phase 2 Risperidone;Non specific Multivitamin
27 A Pilot Study of Oral N-Acetylcysteine in Children With Autism Spectrum Disorders Completed NCT00453180 Phase 2 N-acetylcysteine;Placebo
28 Effects of Intensity of Early Communication Intervention Completed NCT00723151 Phase 2
29 CBT for Comorbid Anxiety Disorders in Children With Autism, Asperger Syndrome, or PDD-NOS Completed NCT00280670 Phase 2
30 An Investigation of the Efficacy in Childhood Obsessive-Compulsive Disorder of Riluzole: An Antiglutamatergic Agent Completed NCT00251303 Phase 2 Riluzole;Placebo
31 An Open-Label Pilot Study of Lurasidone in Treating Antipsychotic Naive or Quasi-Naive Children and Adolescents Completed NCT01731119 Phase 2 Latuda©
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 4274)
# 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. 56 6
27964749 2016
2
Parents' perspectives on participation of young children with attention deficit hyperactivity disorder, developmental coordination disorder, and/ or autism spectrum disorder: A systematic scoping review. 61
31867727 2020
3
Anticholinergic medications for reducing drooling in children with developmental disability. 61
31495925 2020
4
Outcomes from a community-based Positive Behavioural Support team for children and adults with developmental disabilities. 61
31441576 2020
5
Self-determination in adolescents and adults with intellectual and developmental disabilities. 61
31833947 2020
6
Applying the self-determination theory to develop a school-to-work peer mentoring programme to promote social inclusion. 61
31613038 2020
7
Predictors of Trauma Exposure and Trauma Diagnoses for Children with Autism and Developmental Disorders Served in a Community Mental Health Clinic. 61
31838644 2020
8
Defining Inclusion: Faculty and Student Attitudes Regarding Postsecondary Education for Students With Intellectual and Developmental Disabilities. 61
32011227 2020
9
Predictive Model for Gastrostomy Placement in Adolescents With Developmental Disabilities and Cerebral Palsy. 61
31134674 2020
10
Recruitment settings, delivery contexts, intervention techniques and outcomes of health promotion programmes for young adults with intellectual and developmental disabilities: A systematic review. 61
32035320 2020
11
Applications of within-stimulus errorless learning methods for teaching discrimination skills to individuals with intellectual and developmental disabilities: A systematic review. 61
31901670 2020
12
Transition to Adult Care. 61
31760989 2020
13
Interpersonal capitalization moderates the associations of chronic caregiving stress and depression with inflammation. 61
31744782 2020
14
Dance Intervention for Mexican Family Caregivers of Children With Developmental Disability: A Pilot Study. 61
30947622 2020
15
Using administrative data to examine variables affecting the mental health of siblings of children who have a developmental disability. 61
31756693 2020
16
Familial confounding of the association between maternal smoking in pregnancy and autism spectrum disorder in offspring. 61
31464107 2020
17
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. 61
31729143 2020
18
Physical inactivity among parents of children with and without Down syndrome: the National Health Interview Survey. 61
31373080 2020
19
Perspectives about adult sibling relationships: A dyadic analysis of siblings with and without intellectual and developmental disabilities. 61
31783277 2020
20
Indigenous Australians with autism: A scoping review. 61
31928063 2020
21
Seeing strengths: Young adults and their siblings with autism or intellectual disability. 61
31919930 2020
22
Development of the Behavioral Inflexibility Scale for Children with Autism Spectrum Disorder and Other Developmental Disabilities. 61
31904198 2020
23
Life skills instruction for children with developmental disabilities. 61
31290155 2020
24
The Relationship between Expressive Language Sampling and Clinical Measures in Fragile X Syndrome and Typical Development. 61
31991905 2020
25
Long-Term Outcomes of 92 Cases of Fetal Hydrothorax Including Thoracoamniotic Shunting. 61
31212278 2020
26
Concordance of the Vineland Adaptive Behavior Scales, second and third editions. 61
31657503 2020
27
A Hearing Screening Pilot Study With Students With Significant Cognitive Disabilities. 61
31951500 2020
28
Analyzing essays about treating adults with special health care needs and intellectual and developmental disabilities. 61
31985057 2020
29
Technology and social media use by adult patients with intellectual and/or developmental disabilities. 61
31582357 2020
30
A Meta-analysis of Challenging Behavior Interventions for Students with Developmental Disabilities in Inclusive School Settings. 61
31907730 2020
31
Influence of adaptive behaviour on the quality of life of adults with intellectual and developmental disabilities. 61
31960564 2020
32
Providers' Guidance to Parents and Service Use for Latino Children With Developmental Disabilities. 61
31877261 2020
33
Maternal disability and risk for pregnancy, delivery, and postpartum complications: a systematic review and meta-analysis. 61
31306650 2020
34
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
35
Assessment and treatment of self-control with aversive events. 61
31282014 2020
36
Cross-cultural adaptation, validity, and reliability of the Turkish version of Assistance to Participate Scale. 61
31808173 2020
37
Adverse Medication Events Related to Hospitalization in the United States: A Comparison Between Adults With Intellectual and Developmental Disabilities and Those Without. 61
31877264 2020
38
Health care utilisation in infants and young children born to women with intellectual and developmental disabilities: A systematic review and meta-analysis. 61
31997428 2020
39
Development of tablet personal computer-based cognitive training programs for children with developmental disabilities whose cognitive age is less than 4 years. 61
31914058 2020
40
Using a Virtual Manipulative Intervention Package to Support Maintenance in Teaching Subtraction with Regrouping to Students with Developmental Disabilities. 61
31522309 2020
41
Caregiving of offspring with intellectual developmental disabilities in Israeli Jewish and Arab households: Financial and psychosocial differences. 61
31835166 2020
42
Associated Risk Factors for Depression and Anxiety in Adults With Intellectual and Developmental Disabilities: Five-Year Follow Up. 61
31877262 2020
43
The Psychometric Properties of the Structured Preschool Participation Observation (SPO). 61
31928286 2020
44
"Just tell me what's going on": The views of parents of children with genetic conditions regarding the research use of their child's electronic health record. 61
31913479 2020
45
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
46
Relative preferences for edible and leisure stimuli in children with autism: A replication in Italy. 61
31835275 2019
47
Designing Beyond the Americans With Disabilities Act (ADA): Creating an Autism-Friendly Vocational Center. 61
31884824 2019
48
Physical activity guideline compliance among a national sample of children with various developmental disabilities. 61
31875836 2019
49
Panel 5: Impact of otitis media on quality of life and development. 61
31883704 2019
50
Improving medication practices for persons with intellectual and developmental disability: Educating direct support staff using simulation, debriefing, and reflection. 61
28974141 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 3:124951986-124951987 3:125233142-125233143
3 ZNF148 NM_021964.2(ZNF148):c.970dup (p.Ser324fs)duplication Pathogenic 374844 rs1057519267 3:124952599-124952600 3:125233755-125233756
4 ZNF148 NM_021964.2(ZNF148):c.1581_1582insC (p.Lys528fs)insertion Pathogenic 374845 rs1057519268 3:124951988-124951989 3:125233144-125233145
5 ZNF148 NM_021964.2(ZNF148):c.1628_1629CT[1] (p.Leu544fs)short repeat Pathogenic 807527 3:124951939-124951940 3:125233095-125233096
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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