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HJDD
MCID: ABN011
MIFTS: 50

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

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Abnormal Hair, Joint Laxity, and Developmental Delay

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

Name: Abnormal Hair, Joint Laxity, and Developmental Delay 57 73
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome 58 29 6
Pili Torti and Developmental Delay 57 73
Hjdd 57 73
Developmental Disabilities 44
Developmental Disability 17

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Neuronal diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 261990
MESH via Orphanet 45 C537398
UMLS via Orphanet 72 C1849811
Orphanet 58 ORPHA2891
MedGen 41 C1849811
Sources

Summaries for Abnormal Hair, Joint Laxity, and Developmental Delay

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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 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies and pili torti developmental delay neurological abnormalities. An important gene associated with Abnormal Hair, Joint Laxity, and Developmental Delay is HEPHL1 (Hephaestin Like 1). The drugs Dopamine and Guanfacine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and liver, and related phenotypes are ataxia and global developmental delay

OMIM® : 57 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) (Updated 05-Mar-2021)

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

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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 310)
# Related Disease Score Top Affiliating Genes
1 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 11.6
2 pili torti developmental delay neurological abnormalities 11.5
3 short stature, brachydactyly, impaired intellectual development, and seizures 11.3
4 trichothiodystrophy 4, nonphotosensitive 11.0
5 trichothiodystrophy 1, photosensitive 11.0
6 trichothiodystrophy 2, photosensitive 11.0
7 trichothiodystrophy 3, photosensitive 11.0
8 pum1-associated developmental disability-ataxia-seizure syndrome 11.0
9 speech and communication disorders 11.0
10 fanconi anemia, complementation group a 10.9
11 floating-harbor syndrome 10.9
12 rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked 10.9
13 trichothiodystrophy 5, nonphotosensitive 10.9
14 trichothiodystrophy 6, nonphotosensitive 10.9
15 congenital heart defects and ectodermal dysplasia 10.9
16 periventricular nodular heterotopia 8 10.9
17 trichothiodystrophy 7, nonphotosensitive 10.9
18 9q22.3 microdeletion 10.9
19 autism spectrum disorder 10.9
20 autism 10.8
21 alacrima, achalasia, and mental retardation syndrome 10.8
22 cerebral palsy 10.8
23 coffin-siris syndrome 1 10.8
24 wolf-hirschhorn syndrome 10.8
25 costello syndrome 10.8
26 muscular dystrophy-dystroglycanopathy , type a, 4 10.8
27 congenital disorder of glycosylation, type icc 10.8
28 warburg micro syndrome 1 10.8
29 kleefstra syndrome 1 10.8
30 acrodysostosis 2 with or without hormone resistance 10.8
31 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 10.8
32 spinocerebellar ataxia 47 10.8
33 walker-warburg syndrome 10.8
34 warburg micro syndrome 10.8
35 down syndrome 10.7
36 pervasive developmental disorder 10.5
37 attention deficit-hyperactivity disorder 10.5
38 disease of mental health 10.5
39 learning disability 10.4
40 aging 10.4
41 fragile x syndrome 10.3
42 seizure disorder 10.3
43 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.3
44 covid-19 10.3
45 substance abuse 10.3
46 sleep disorder 10.3
47 anxiety 10.3
48 neural tube defects 10.2
49 rett syndrome 10.2
50 yemenite deaf-blind hypopigmentation syndrome 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
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Symptoms & Phenotypes for Abnormal Hair, Joint Laxity, and Developmental Delay

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

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
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 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
10 hypotonia 31 frequent (33%) HP:0001252
11 muscular hypotonia 58 Frequent (79-30%)
12 microdontia 31 HP:0000691
13 mitral regurgitation 31 HP:0001653
14 joint hypermobility 31 HP:0001382
15 elfin facies 31 HP:0004428
16 trichorrhexis nodosa 31 HP:0009886
17 sparse eyebrow 31 HP:0045075
18 tricuspid regurgitation 31 HP:0005180
19 small nail 31 HP:0001792
20 fragile nails 31 HP:0001808
21 poor speech 31 HP:0002465
22 clinodactyly 31 HP:0030084
23 syndactyly 31 HP:0001159
24 increased carrying angle 31 HP:0003102
25 brittle scalp hair 31 HP:0004779

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.65 FGD1 JAG1 NIPBL OFD1 PTPN11
2 embryo MP:0005380 9.55 FGD1 JAG1 NIPBL OFD1 PTPN11
3 mortality/aging MP:0010768 9.5 FGD1 FOXL2 HEPHL1 JAG1 NIPBL OFD1
4 no phenotypic analysis MP:0003012 8.92 FOXL2 HEPHL1 JAG1 PTPN11
Sources

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

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

(show top 50) (show all 122)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
5 Immunologic Factors Phase 4
6 Immunoglobulins Phase 4
7 gamma-Globulins Phase 4
8 Immunoglobulins, Intravenous Phase 4
9 Antibodies Phase 4
10 Rho(D) Immune Globulin Phase 4
11 Neurotransmitter Agents Phase 4
12 Central Nervous System Stimulants Phase 4
13 Dopamine Agents Phase 4
14 Dopamine Uptake Inhibitors Phase 4
15 Adrenergic Agonists Phase 4
16 Adrenergic alpha-Agonists Phase 4
17 Anticonvulsants Phase 4
18
Sodium citrate Approved, Investigational Phase 3 68-04-2
19
Caffeine Approved Phase 3 58-08-2 2519
20
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
21
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585 135398745
22
Haloperidol Approved Phase 3 52-86-8 3559
23
Clozapine Approved Phase 3 5786-21-0 2818
24
Aripiprazole Approved, Investigational Phase 3 129722-12-9 60795
25
Mirtazapine Approved Phase 3 85650-52-8, 61337-67-5 4205
26
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
27
Cycloserine Approved Phase 3 68-41-7 401 6234
28
Oxytocin Approved, Vet_approved Phase 3 50-56-6 439302 53477758
29
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
30
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
31 Citrate Phase 3
32 Phosphodiesterase Inhibitors Phase 3
33 Caffeine citrate Phase 3
34 Dopamine Antagonists Phase 3
35 Psychotropic Drugs Phase 3
36 Antipsychotic Agents Phase 3
37 Haloperidol decanoate Phase 3
38 Serotonin Uptake Inhibitors Phase 3
39 Gastrointestinal Agents Phase 3
40 Antiemetics Phase 3
41 Serotonin Receptor Agonists Phase 3
42 Dopamine agonists Phase 3
43 Serotonin 5-HT1 Receptor Agonists Phase 3
44 Antidepressive Agents Phase 3
45 Adrenergic alpha-Antagonists Phase 3
46 Histamine Antagonists Phase 3
47
Histamine Phosphate Phase 3 51-74-1 65513
48 Histamine H1 Antagonists Phase 3
49 Anti-Anxiety Agents Phase 3
50 Serotonin 5-HT3 Receptor Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 189)
# 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 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
3 Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population Completed NCT00207935 Phase 4
4 Methylphenidate Study in Young Children With Developmental Disorders Completed NCT00517504 Phase 4 Methylphenidate
5 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
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 Efficacy and Safety of Methylxanthines in Very Low Birthweight Infants Completed NCT00182312 Phase 3 Caffeine citrate injection
8 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
9 Effects of Risperidone on Cognitive-Motor Performance and Motor Movements in Chronically Medicated Children Completed NCT00399698 Phase 3 Risperdal
10 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
11 2/3 Treatment of Anxiety in Autism Spectrum Disorder Completed NCT02028247 Phase 3
12 Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders Completed NCT01302964 Phase 3 Placebo;Mirtazapine
13 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
14 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
15 Pharmacotherapy of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
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 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
18 Randomized Double-Blind Trial of Low-Dose Naltrexone for Children With PDD Unknown status NCT00318162 Phase 1, Phase 2 low dose naltrexone
19 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)
20 Effect of Endermotherapy on Passive Ankle Range of Motion in Children With Developmental Disabilities Completed NCT01207570 Phase 2
21 An Investigation of the Efficacy in Childhood Obsessive-Compulsive Disorder of Riluzole: An Antiglutamatergic Agent Completed NCT00251303 Phase 2 Riluzole;Placebo
22 An Open-Label Study of Aripiprazole in Children and Adolescents With Autistic Disorder Completed NCT00198055 Phase 2 aripiprazole
23 A Pilot Study of Oral N-Acetylcysteine in Children With Autism Spectrum Disorders Completed NCT00453180 Phase 2 N-acetylcysteine;Placebo
24 A Prospective Open-Label Trial of Aripiprazole Monotherapy in the Autism Spectrum Disorders (ASD) Completed NCT00308074 Phase 2 Aripiprazole
25 An Open-Label Pilot Study of Lurasidone in Treating Antipsychotic Naive or Quasi-Naive Children and Adolescents Completed NCT01731119 Phase 2 Latuda©
26 Effects of Intensity of Early Communication Intervention Completed NCT00723151 Phase 2
27 CBT for Anxiety Disorders in Autism: Adapting Treatment for Adolescents Completed NCT01177969 Phase 1, Phase 2
28 Pharmacogenetics of Risperidone in Children With Pervasive Developmental Disorder (PDD) Completed NCT00166595 Phase 1, Phase 2 Risperidone
29 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
30 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
31 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)
32 Safety/Efficacy of Intranasally-Administered Bioactive Factors Produced by M2 Type Macrophages in Children With Developmental Speech Disorders Recruiting NCT04689282 Phase 1, Phase 2
33 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
34 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)
35 An Investigation of the Efficacy of Mercury Chelation as a Treatment for Autism Spectrum Disorder Withdrawn NCT00376194 Phase 2 DMSA
36 An RCT of a Low-Intensity Intervention to Reduce Delay Unknown status NCT00110292 Phase 1
37 Neuronal Nicotinic Receptor Modulation in the Treatment of Autism: A Pilot Trial of Mecamylamine Completed NCT00773812 Phase 1 mecamylamine;placebo
38 Risperidone Pharmacokinetics in Children With Pervasive Developmental Disorder Completed NCT00147394 Phase 1 Risperidone
39 A Cognitive-Behavioral Intervention for Children With Autism Spectrum Disorders Completed NCT00926471 Phase 1
40 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
41 A Randomized, Investigator- /Subject-blind, Single- and Multiple-ascending Dose, Placebo-controlled Study to Investigate Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 Following Oral Administration in Healthy Male Participants Recruiting NCT04475848 Phase 1 RO6953958;Placebo
42 Cross-Species Multi-Modal Neuroimaging to Investigate GABA Physiology in Fragile X Syndrome Terminated NCT04308954 Phase 1 [18F]flumazenil
43 Evaluation and Treatment of Copper/Zinc Imbalance in Children With Autism Terminated NCT00325572 Phase 1 oral zinc and vitamin C supplements
44 Development of a New Diagnosis and Intervention Method for Developmental Disorders Unknown status NCT01166152
45 The Investigation of Children With Developmental Delay and Children's Rehabilitation Common Case: A Longitudinal Study Unknown status NCT02686931
46 Feasibility Test of a Pediatric Web-Based Care Planning Guide Unknown status NCT03820011
47 Characterization of Executive Functions and Patterns of Eye Movements in Children With Developmental Disabilities Unknown status NCT00716235
48 S100B as a Marker of Brain Injury of Preterm Infants Unknown status NCT02082535
49 Validity and Reliability of Turkish Version of Turkish Version of The Measure of Processes of Care (MPOC 56-20- SP) Unknown status NCT03508583
50 Are IQs Low in Offspring of Euthyroid Women With Low T4? Unknown status NCT00147433

Search NIH Clinical Center for Abnormal Hair, Joint Laxity, and Developmental Delay

Cochrane evidence based reviews: developmental disabilities

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

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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
Sources

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

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

40
Brain, Eye, Liver, Skin, Heart, Bone, Lung
Sources

Publications for Abnormal Hair, Joint Laxity, and Developmental Delay

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

(show top 50) (show all 1265)
# Title Authors PMID Year
1
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. 57 6
31125343 2019
2
Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities. 57
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
Examining Growth Among College Students With Intellectual and Developmental Disability: A Longitudinal Study. 61
33354996 2021
9
Characterization of the GABRB2-Associated Neurodevelopmental Disorders. 61
33325057 2021
10
Parental involvement in developmental disabilities across three cultures: A systematic review. 61
33482560 2021
11
Association of Preexisting Disability With Severe Maternal Morbidity or Mortality in Ontario, Canada. 61
33555330 2021
12
Glucocorticoid regulation and neuroanatomy in fragile x syndrome. 61
33373777 2021
13
Employment Outcomes After a Birth of a Child with a Developmental Disability: A National Nested Case-Control Study. 61
32621096 2021
14
Parent-authored memoirs: Lessons in the practice of narrative medicine. 61
33599369 2021
15
Genetic developmental disability diagnosed in adulthood: a case report. 61
33494837 2021
16
A 6-year-old Refugee Girl with Profound Developmental Disability and Seizures. 61
33386354 2021
17
Bedouin mothers of young children with developmental disability - Stigma, quality of life and collaboration with professionals. 61
33302171 2021
18
Isolating residents including wandering residents in care and group homes: Medical ethics and English law in the context of Covid-19. 61
33418151 2021
19
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature. 61
33044030 2021
20
The Otteroo: A Case Series Exploring Its Potential to Support Physical Therapy Intervention in Infants with or at Risk for Developmental Delay. 61
33494190 2021
21
Weight outcomes in children with developmental disabilities from a multidisciplinary clinic. 61
33220529 2021
22
Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG. 61
33394555 2021
23
Validation of the MEDSAIL Tool to Screen for Capacity for Safe and Independent Living Among Nursing Home Residents. 61
32636169 2020
24
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. 61
33232675 2020
25
Increasing Exercise Intensity: Teaching High-Intensity Interval Training to Individuals with Developmental Disabilities Using a Lottery Reinforcement System. 61
33269193 2020
26
Participants in Behavior-Analytic Sports Studies: Can Anybody Play? 61
33269192 2020
27
Juntos: A Support Program for Families Impacted by Congenital Zika Syndrome in Brazil. 61
33361247 2020
28
How do we know if interventions in developmental disability are effective? 61
33146437 2020
29
COVID-19 outcomes among people with intellectual and developmental disability in California: The importance of type of residence and skilled nursing care needs. 61
33309535 2020
30
Understanding Barriers to Access and Utilization of Developmental Disability Services Facilitating Transition. 61
32833872 2020
31
Prevalence and Correlates of Caregiver-Reported Mental Health Conditions in Youth With Autism Spectrum Disorder in the United States. 61
33356021 2020
32
The impact of emotional development in people with autism spectrum disorder and intellectual developmental disability. 61
33043998 2020
33
The effect of fecal microbiota transplantation on autistic-like behaviors in Fmr1 KO mice. 61
32987062 2020
34
CE: Autism Spectrum Disorder: The Nurse's Role. 61
33086217 2020
35
Evidence of continued reduction in the age-at-death disparity between adults with and without intellectual and/or developmental disabilities. 61
33247487 2020
36
Pregnancy in women with physical and intellectual disability: psychiatric implications. 61
33349725 2020
37
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. 61
33247512 2020
38
Increased risk for child maltreatment in those with developmental disability: A primary health care perspective from Israel. 61
32957007 2020
39
Factors contributing to antihypertensive medication adherence among adults with intellectual and developmental disability. 61
33140659 2020
40
In-home comprehensive medication reviews for adults with intellectual or developmental disability: A pilot study. 61
32334965 2020
41
Prevalence of Births and Interactions with Child Protective Services of Children Born to Mothers Diagnosed with an Intellectual and/or Developmental Disability. 61
33242207 2020
42
Educating behavior clinicians in a community behavior care center for children with autism spectrum disorder: Medication administration a pilot study in the United States. 61
33190595 2020
43
Mental health risks of parents of children with developmental disabilities: A nationally representative study in the United States. 61
33187876 2020
44
Appropriateness of psychotropic medication use in a cohort of adolescents with intellectual disability in Queensland, Australia. 61
33198847 2020
45
Health-Related Quality of Life After Community-Acquired Septic Shock in Children With Preexisting Severe Developmental Disabilities. 61
33156209 2020
46
[Fetal alcohol spectrum disorders in adults]. 61
33104818 2020
47
Information and communication technology-based assistive technology to compensate for impaired cognition in everyday life: a systematic review. 61
32407217 2020
48
Trajectories and Risk Factors for Altered Physical and Psychosocial Health-Related Quality of Life After Pediatric Community-Acquired Septic Shock. 61
32667767 2020
49
A Preliminary Epidemiologic Study of Social (Pragmatic) Communication Disorder Relative to Autism Spectrum Disorder and Developmental Disability Without Social Communication Deficits. 61
33037562 2020
50
Experiences With the Mental Health Service System of Family Caregivers of Individuals With an Intellectual/Developmental Disability Referred to START. 61
33032318 2020
Sources

Variations for Abnormal Hair, Joint Laxity, and Developmental Delay

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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 rs774463623 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 rs774463623
2 HEPHL1 p.Met1059Thr VAR_082701 rs199856193

Sources

Expression for Abnormal Hair, Joint Laxity, and Developmental Delay

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

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

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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

Sources for Abnormal Hair, Joint Laxity, and Developmental Delay

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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