HJDD
MCID: ABN011
MIFTS: 50

Abnormal Hair, Joint Laxity, and Developmental Delay (HJDD)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Abnormal Hair, Joint Laxity, and Developmental Delay

MalaCards integrated aliases for Abnormal Hair, Joint Laxity, and Developmental Delay:

Name: Abnormal Hair, Joint Laxity, and Developmental Delay 56 73
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome 58 29 6
Pili Torti and Developmental Delay 56 73
Hjdd 56 73
Developmental Disabilities 43
Developmental Disability 17

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated june 2019)
normal hair at birth


HPO:

31
abnormal hair, joint laxity, and developmental delay:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Abnormal Hair, Joint Laxity, and Developmental Delay

UniProtKB/Swiss-Prot : 73 Abnormal hair, joint laxity, and developmental delay: An autosomal recessive disease characterized by abnormal hair, cognitive delay, speech articulation disorder, and increased joint mobility. At birth patients have normal hair that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa.

MalaCards based summary : Abnormal Hair, Joint Laxity, and Developmental Delay, also known as pili torti-developmental delay-neurological abnormalities syndrome, is related to noonan syndrome 1 and short stature, brachydactyly, intellectual developmental disability, and seizures. An important gene associated with Abnormal Hair, Joint Laxity, and Developmental Delay is HEPHL1 (Hephaestin Like 1). The drugs Dopamine and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are global developmental delay and ataxia

OMIM : 56 Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay (Sharma et al., 2019). (261990)

Related Diseases for Abnormal Hair, Joint Laxity, and Developmental Delay

Diseases related to Abnormal Hair, Joint Laxity, and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 348)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome 1 28.4 PTPN11 NIPBL FOXL2
2 short stature, brachydactyly, intellectual developmental disability, and seizures 12.5
3 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 11.9
4 pili torti developmental delay neurological abnormalities 11.7
5 autism 11.4
6 fragile x syndrome 11.3
7 speech and communication disorders 11.2
8 angelman syndrome 11.2
9 fanconi anemia, complementation group a 11.2
10 chromosome 15q13.3 deletion syndrome 11.2
11 trichothiodystrophy 4, nonphotosensitive 11.0
12 trichothiodystrophy 1, photosensitive 11.0
13 trichothiodystrophy 2, photosensitive 11.0
14 trichothiodystrophy 3, photosensitive 11.0
15 coffin-siris syndrome 1 10.9
16 floating-harbor syndrome 10.9
17 wolf-hirschhorn syndrome 10.9
18 costello syndrome 10.9
19 muscular dystrophy-dystroglycanopathy , type a, 4 10.9
20 rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked 10.9
21 trichothiodystrophy 5, nonphotosensitive 10.9
22 congenital disorder of glycosylation, type icc 10.9
23 warburg micro syndrome 1 10.9
24 kleefstra syndrome 1 10.9
25 acrodysostosis 2 with or without hormone resistance 10.9
26 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 10.9
27 trichothiodystrophy 6, nonphotosensitive 10.9
28 congenital heart defects and ectodermal dysplasia 10.9
29 spinocerebellar ataxia 47 10.9
30 periventricular nodular heterotopia 8 10.9
31 trichothiodystrophy 7, nonphotosensitive 10.9
32 walker-warburg syndrome 10.9
33 warburg micro syndrome 10.9
34 9q22.3 microdeletion 10.9
35 autism spectrum disorder 10.7
36 alacrima, achalasia, and mental retardation syndrome 10.7
37 cerebral palsy 10.7
38 down syndrome 10.6
39 pervasive developmental disorder 10.4
40 attention deficit-hyperactivity disorder 10.4
41 learning disability 10.4
42 seizure disorder 10.3
43 visual epilepsy 10.3
44 aging 10.2
45 disease of mental health 10.2
46 anxiety 10.2
47 yemenite deaf-blind hypopigmentation syndrome 10.2
48 gastroesophageal reflux 10.2
49 rett syndrome 10.2
50 psychotic disorder 10.2

Graphical network of the top 20 diseases related to Abnormal Hair, Joint Laxity, and Developmental Delay:



Diseases related to Abnormal Hair, Joint Laxity, and Developmental Delay

Symptoms & Phenotypes for Abnormal Hair, Joint Laxity, and Developmental Delay

Human phenotypes related to Abnormal Hair, Joint Laxity, and Developmental Delay:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
4 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
5 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
6 pili torti 58 31 hallmark (90%) Very frequent (99-80%) HP:0003777
7 sparse or absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0200102
8 abnormality of hair texture 58 31 hallmark (90%) Very frequent (99-80%) HP:0010719
9 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
10 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
11 microdontia 31 HP:0000691
12 mitral regurgitation 31 HP:0001653
13 joint hypermobility 31 HP:0001382
14 elfin facies 31 HP:0004428
15 trichorrhexis nodosa 31 HP:0009886
16 sparse eyebrow 31 HP:0045075
17 tricuspid regurgitation 31 HP:0005180
18 small nail 31 HP:0001792
19 fragile nails 31 HP:0001808
20 poor speech 31 HP:0002465
21 clinodactyly 31 HP:0030084
22 syndactyly 31 HP:0001159
23 increased carrying angle 31 HP:0003102
24 brittle scalp hair 31 HP:0004779

Symptoms via clinical synopsis from OMIM:

56
Skeletal Limbs:
joint hypermobility
increased carrying angle at elbows

Skin Nails Hair Hair:
trichorrhexis nodosa
pili torti
sparse eyebrows
absent lateral third of eyelashes
coarse brittle scalp hair
more
Head And Neck Teeth:
small teeth
slightly discolored teeth

Neurologic Central Nervous System:
cognitive delay
poor speech articulation

Skeletal Hands:
increased mobility of thumbs
short fourth and fifth metacarpals

Neurologic Behavioral Psychiatric Manifestations:
attention-deficit/hyperactivity disorder

Head And Neck Face:
elfin facies

Skin Nails Hair Nails:
hypoplastic nails
brittle nails

Head And Neck Eyes:
sparse eyebrows
absent lateral third of eyelashes
prominent markings of upper eyelids
prominent infraorbital folds

Cardiovascular Heart:
mitral regurgitation, mild
tricuspid regurgitation, mild
pulmonic regurgitation, mild

Skeletal Feet:
clinodactyly, mild (toes 4-5)
syndactyly (toes 2-3)

Clinical features from OMIM:

261990

MGI Mouse Phenotypes related to Abnormal Hair, Joint Laxity, and Developmental Delay:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.72 FGD1 JAG1 NIPBL OFD1 PTPN11
2 mortality/aging MP:0010768 9.7 FGD1 FOXL2 HEPHL1 JAG1 NIPBL OFD1
3 embryo MP:0005380 9.65 FGD1 JAG1 NIPBL OFD1 PTPN11
4 no phenotypic analysis MP:0003012 9.26 FOXL2 HEPHL1 JAG1 PTPN11
5 vision/eye MP:0005391 9.02 FGD1 FOXL2 JAG1 NIPBL PTPN11

Drugs & Therapeutics for Abnormal Hair, Joint Laxity, and Developmental Delay

Drugs for Abnormal Hair, Joint Laxity, and Developmental Delay (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 145)
# 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 284)
# 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 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
10 Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders Completed NCT01302964 Phase 3 Placebo;Mirtazapine
11 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
12 Pharmacotherapy of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
13 Supporting the Well Being of Families of Young Children With Autism Spectrum Completed NCT01021384 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 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
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 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Active, not recruiting NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
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 An Open-Label Study of Aripiprazole in Children and Adolescents With Autistic Disorder Completed NCT00198055 Phase 2 aripiprazole
28 Effects of Intensity of Early Communication Intervention Completed NCT00723151 Phase 2
29 Therapeutic Issues for Autism Spectrum Disorders: a Clinical Trial Completed NCT03887754 Phase 2 Risperidone;Non specific Multivitamin
30 A Pilot Study of Oral N-Acetylcysteine in Children With Autism Spectrum Disorders Completed NCT00453180 Phase 2 N-acetylcysteine;Placebo
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 An Open-Label Pilot Study of Lurasidone in Treating Antipsychotic Naive or Quasi-Naive Children and Adolescents Completed NCT01731119 Phase 2 Latuda©
35 CBT for Comorbid Anxiety Disorders in Children With Autism, Asperger Syndrome, or PDD-NOS Completed NCT00280670 Phase 2
36 CBT for Anxiety Disorders in Autism: Adapting Treatment for Adolescents Completed NCT01177969 Phase 1, Phase 2
37 Cholesterol in Autism Spectrum Disorder (ASD): Characterization and Treatment Completed NCT00965068 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 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
40 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
41 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)
42 An Investigation of the Efficacy of Mercury Chelation as a Treatment for Autism Spectrum Disorder Withdrawn NCT00376194 Phase 2 DMSA
43 An RCT of a Low-Intensity Intervention to Reduce Delay Unknown status NCT00110292 Phase 1
44 Neuronal Nicotinic Receptor Modulation in the Treatment of Autism: A Pilot Trial of Mecamylamine Completed NCT00773812 Phase 1 mecamylamine;placebo
45 Risperidone Pharmacokinetics in Children With Pervasive Developmental Disorder Completed NCT00147394 Phase 1 Risperidone
46 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
47 A Cognitive-Behavioral Intervention for Children With Autism Spectrum Disorders Completed NCT00926471 Phase 1
48 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
49 Cross-Species Multi-Modal Neuroimaging to Investigate GABA Physiology in Fragile X Syndrome Recruiting NCT04308954 Phase 1 [18F]flumazenil
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 Abnormal Hair, Joint Laxity, and Developmental Delay

Cochrane evidence based reviews: developmental disabilities

Genetic Tests for Abnormal Hair, Joint Laxity, and Developmental Delay

Genetic tests related to Abnormal Hair, Joint Laxity, and Developmental Delay:

# Genetic test Affiliating Genes
1 Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome 29 HEPHL1

Anatomical Context for Abnormal Hair, Joint Laxity, and Developmental Delay

MalaCards organs/tissues related to Abnormal Hair, Joint Laxity, and Developmental Delay:

40
Brain, Testes, Eye, Liver, Lung, Skin, Bone

Publications for Abnormal Hair, Joint Laxity, and Developmental Delay

Articles related to Abnormal Hair, Joint Laxity, and Developmental Delay:

(show top 50) (show all 1202)
# Title Authors PMID Year
1
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. 56 6
31125343 2019
2
Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities. 56
1379303 1992
3
Frontostriatal deficits in fragile X syndrome: relation to FMR1 gene expression. 61 54
14993603 2004
4
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 61 54
11719334 2001
5
Distribution of FMR1 and FMR2 alleles in Javanese individuals with developmental disability and confirmation of a specific AGG-interruption pattern in Asian populations. 61 54
11427173 2001
6
Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities. 61 54
8844096 1996
7
Neurodevelopmental effects of the FMR-1 full mutation in humans. 61 54
7585014 1995
8
Prevalence of intellectual disability in New South Wales, Australia: a multi-year cross-sectional dataset by Local Government Area (LGA). 61
32462063 2020
9
DNA methylation: A mechanism for sustained alteration of KIR4.1 expression following central nervous system insult. 61
32068308 2020
10
Factors predicting school staff's responsivity toward students with intellectual and developmental disability and complex communication needs. 61
32388042 2020
11
Supporting individuals with intellectual and developmental disability during the first 100 days of the COVID-19 outbreak in the USA. 61
32490559 2020
12
The views and experiences of fathers regarding their young child's intellectual and developmental disability diagnosis: findings from a qualitative study. 61
32498120 2020
13
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. 61
32519519 2020
14
Influences of parentification and benefit finding on prosocial behavior among typically developing siblings of individuals with autism spectrum disorder. 61
32502846 2020
15
Estimated Prevalence of Asthma in US Children With Developmental Disabilities. 61
32543699 2020
16
MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism. 61
32267091 2020
17
Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome. 61
32516799 2020
18
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. 61
32103184 2020
19
A nurses' ethical commitment to people with intellectual and developmental disabilities. 61
32228209 2020
20
Neurocognitive impairment after neonatal sepsis: protocol for a systematic review and meta-analysis. 61
32532785 2020
21
Pain interventions in adults with intellectual disability: A scoping review and pharmacological considerations. 61
32060971 2020
22
Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations. 61
32393163 2020
23
Information and communication technology-based assistive technology to compensate for impaired cognition in everyday life: a systematic review. 61
32407217 2020
24
Parental perspective: Factors that played a role in facilitating or impeding the parents' understanding of their child's developmental diagnostic assessment. 61
31984529 2020
25
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1. 61
32395406 2020
26
Voices from the Newspaper Club: Patient Life at a State Psychiatric Hospital (1988-1992). 61
32435958 2020
27
The causal web of foetal alcohol spectrum disorders: a review and causal diagram. 61
30648224 2020
28
Sex and rural-urban differences in the prevalence of childhood visual impairment in Taiwan: A nationwide population-based study. 61
32422394 2020
29
Outpatient Anesthesia Facilitates Stereotactic Body Radiation Therapy for Early Stage Lung Cancer Patients With Advanced Cognitive Impairments. 61
32529139 2020
30
CHD2-related epilepsy: novel mutations and new phenotypes. 61
31677157 2020
31
Measurement invariance of the Positive Gains Scale in families of children with and without disabilities. 61
32438248 2020
32
The Caregiver Health Effects of Caring for Young Children with Developmental Disabilities: A Meta-analysis. 61
32048172 2020
33
Autistic Self Advocacy in the Developmental Disability Movement. 61
32223631 2020
34
Health Care Use and Spending of Pediatric Patients With an Intellectual or Developmental Disability. 61
31934953 2020
35
Standardizing the assessment of emotional development in adults with intellectual and developmental disability. 61
32048401 2020
36
Delirium and Developmental Disability: Improving Specificity of a Pediatric Delirium Screen. 61
32106184 2020
37
Intellectual and developmental disability and COVID-19 case-fatality trends: TriNetX analysis. 61
32473875 2020
38
In-home comprehensive medication reviews for adults with intellectual or developmental disability: A pilot study. 61
32334965 2020
39
Trauma-informed care in the context of intellectual and developmental disability services: Perceptions of service providers. 61
32319343 2020
40
Hospitalization rates of children by developmental disability, maternal nativity, and Indigenous status: the complexity of intersectionality. 61
31583687 2020
41
Life-long individual planning in children with developmental disability: the active role of parents in the Italian experience. 61
32567567 2020
42
Mental health outcomes among parents of a child who has a developmental disability: Comparing different types of developmental disability. 61
31796336 2020
43
Physical activity guideline compliance among a national sample of children with various developmental disabilities. 61
31875836 2020
44
Parent preferences for neurodevelopmental screening in the neonatal intensive care unit. 61
31909496 2020
45
Hospital admissions in children with developmental disabilities from ethnic minority backgrounds. 61
31498429 2020
46
The stability of function of automatically reinforced vocal stereotypy over time. 61
31378941 2020
47
An Examination of the Validity of the Health Risk Screening Tool: Predicting Mortality in People With Intellectual Disabilities. 61
32295856 2020
48
Neurodevelopmental Outcomes at 42 Months After Thyroxine Supplementation in Infants Below 28 Weeks' Gestation: A Randomized Controlled Trial. 61
32070246 2020
49
An Examination of the Validity of the Health Risk Screening Tool: Predicting Mortality in People With Intellectual Disabilities. 61
32179718 2020
50
Exploring the effectiveness of an 18-month weight management intervention in adults with Down syndrome using propensity score matching. 61
31944472 2020

Variations for Abnormal Hair, Joint Laxity, and Developmental Delay

ClinVar genetic disease variations for Abnormal Hair, Joint Laxity, and Developmental Delay:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HEPHL1 NM_001098672.2(HEPHL1):c.1063G>A (p.Ala355Thr)SNV Pathogenic 635195 11:93800916-93800916 11:94067750-94067750
2 HEPHL1 NM_001098672.2(HEPHL1):c.3176T>C (p.Met1059Thr)SNV Pathogenic 635196 rs199856193 11:93844199-93844199 11:94111033-94111033

UniProtKB/Swiss-Prot genetic disease variations for Abnormal Hair, Joint Laxity, and Developmental Delay:

73
# Symbol AA change Variation ID SNP ID
1 HEPHL1 p.Ala355Thr VAR_082700
2 HEPHL1 p.Met1059Thr VAR_082701

Expression for Abnormal Hair, Joint Laxity, and Developmental Delay

Search GEO for disease gene expression data for Abnormal Hair, Joint Laxity, and Developmental Delay.

Pathways for Abnormal Hair, Joint Laxity, and Developmental Delay

GO Terms for Abnormal Hair, Joint Laxity, and Developmental Delay

Biological processes related to Abnormal Hair, Joint Laxity, and Developmental Delay according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear development GO:0048839 9.16 PTPN11 JAG1
2 face morphogenesis GO:0060325 8.96 PTPN11 NIPBL
3 positive regulation of ossification GO:0045778 8.62 PTPN11 NIPBL

Sources for Abnormal Hair, Joint Laxity, and Developmental Delay

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
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