Trigonocephaly with Short Stature and Developmental Delay (SAMES)

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Trigonocephaly with Short Stature and Developmental Delay

MalaCards integrated aliases for Trigonocephaly with Short Stature and Developmental Delay:

Name: Trigonocephaly with Short Stature and Developmental Delay 57
Say-Meyer Syndrome 57 74 20 58
Trigonocephaly-Short Stature-Developmental Delay Syndrome 20 58 6
Say Meyer Syndrome 20 71
Trigonocephaly, Short Stature, and Retarded Psychomotor Development 20
Say-Meyer Syndrome; Sames 57
Sames 57


Orphanet epidemiological data:

trigonocephaly-short stature-developmental delay syndrome
Prevalence: <1/1000000 (Worldwide);


57 (Updated 05-Mar-2021)
x-linked recessive


trigonocephaly with short stature and developmental delay:
Inheritance x-linked recessive inheritance


Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis

Summaries for Trigonocephaly with Short Stature and Developmental Delay

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3369DefinitionTrigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.Visit the Orphanet disease page for more resources.

MalaCards based summary : Trigonocephaly with Short Stature and Developmental Delay, also known as say-meyer syndrome, is related to synostosis and mental retardation, x-linked, syndromic, turner type, and has symptoms including seizures An important gene associated with Trigonocephaly with Short Stature and Developmental Delay is HUWE1 (HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1). The drugs Omeprazole and Phenytoin have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and liver, and related phenotypes are global developmental delay and short stature

Wikipedia : 74 Say-Meyer syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental... more...

More information from OMIM: 314320

Related Diseases for Trigonocephaly with Short Stature and Developmental Delay

Diseases related to Trigonocephaly with Short Stature and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 synostosis 10.2
2 mental retardation, x-linked, syndromic, turner type 10.1
3 alacrima, achalasia, and mental retardation syndrome 10.1
4 autism spectrum disorder 10.1
5 syndromic x-linked intellectual disability turner type 10.1
6 x-linked intellectual disability, turner type 10.1

Graphical network of the top 20 diseases related to Trigonocephaly with Short Stature and Developmental Delay:

Diseases related to Trigonocephaly with Short Stature and Developmental Delay

Symptoms & Phenotypes for Trigonocephaly with Short Stature and Developmental Delay

Human phenotypes related to Trigonocephaly with Short Stature and Developmental Delay:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 trigonocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000243
4 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
5 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
6 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
7 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
8 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
9 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
10 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
11 multiple suture craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0011324
12 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
13 postnatal microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0005484
14 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
15 large beaked nose 58 31 frequent (33%) Frequent (79-30%) HP:0003683
16 narrow forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000341
17 small anterior fontanelle 58 31 frequent (33%) Frequent (79-30%) HP:0000237
18 fifth finger distal phalanx clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0005769
19 broad secondary alveolar ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000216
20 premature posterior fontanelle closure 58 31 frequent (33%) Frequent (79-30%) HP:0005494
21 metopic suture patent to nasal root 58 31 frequent (33%) Frequent (79-30%) HP:0005495
22 epicanthus 31 frequent (33%) HP:0000286
23 seizure 31 frequent (33%) HP:0001250
24 intellectual disability 31 HP:0001249
25 seizures 58 Frequent (79-30%)
26 low-set ears 31 HP:0000369
27 clinodactyly of the 5th finger 31 HP:0004209
28 convex nasal ridge 31 HP:0000444
29 posteriorly rotated ears 31 HP:0000358
30 sagittal craniosynostosis 31 HP:0004442
31 lambdoidal craniosynostosis 31 HP:0004443
32 prominent epicanthal folds 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
developmental delay
mental retardation

Head And Neck Nose:
wide nasal bridge
beaked nose

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Eyes:
epicanthal folds

Growth Other:
small for gestational age

Skeletal Hands:
fifth finger clinodactyly

Skeletal Skull:
craniosynostosis (metopic, sagittal, lambdoid)

Genitourinary External Genitalia Male:
inguinal hernia

Growth Height:
short stature

Cardiovascular Heart:
ventricular septal defect

Head And Neck Head:
small anterior fontanelle
premature posterior fontanelle closure

Head And Neck Face:
narrow forehead

Head And Neck Mouth:
high-arched palate
secondary alveolar ridges

Clinical features from OMIM®:

314320 (Updated 05-Mar-2021)

UMLS symptoms related to Trigonocephaly with Short Stature and Developmental Delay:


Drugs & Therapeutics for Trigonocephaly with Short Stature and Developmental Delay

Drugs for Trigonocephaly with Short Stature and Developmental Delay (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1497)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
Enalaprilat Approved Phase 4 76420-72-9 6917719
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
Lenograstim Approved, Investigational Phase 4 135968-09-1
Prilocaine Approved Phase 4 721-50-6 4906
Probucol Approved, Investigational Phase 4 23288-49-5 4912
Alprostadil Approved, Investigational Phase 4 745-65-3 149351 5280723
Sargramostim Approved, Investigational Phase 4 123774-72-1, 83869-56-1
Warfarin Approved Phase 4 81-81-2 6691 54678486
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
Cisatracurium Approved Phase 4 96946-41-7 62887
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
Icodextrin Approved, Investigational Phase 4 337376-15-5
Rufinamide Approved Phase 4 106308-44-5 129228
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
Nitrazepam Approved Phase 4 146-22-5 4506
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
Felbamate Approved Phase 4 25451-15-4 3331
Ethosuximide Approved Phase 4 77-67-8 3291
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
Lacidipine Approved, Investigational Phase 4 103890-78-4
glycyrrhizin Approved, Experimental Phase 4 1405-86-3 3495
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
Amantadine Approved Phase 4 768-94-5 2130
Topiramate Approved Phase 4 97240-79-4 5284627
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
Ziprasidone Approved Phase 4 146939-27-7 60854
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
33 sodium fluoride Approved Phase 4 7681-49-4
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
Entacapone Approved, Investigational Phase 4 130929-57-6 5281081
Montelukast Approved Phase 4 158966-92-8 5281040
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
Zanamivir Approved, Investigational Phase 4 139110-80-8 60855
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
Abciximab Approved Phase 4 143653-53-6
Bisacodyl Approved Phase 4 603-50-9
Chromium Approved Phase 4 7440-47-3 27668
Cobalt Approved, Experimental Phase 4 7440-48-4 104729
Remifentanil Approved Phase 4 132875-61-7 60815
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
Ribavirin Approved Phase 4 36791-04-5 37542
Budesonide Approved Phase 4 51333-22-3 63006 5281004
49 Strawberry Approved Phase 4
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171

Interventional clinical trials:

(show top 50) (show all 7670)
# Name Status NCT ID Phase Drugs
1 Comparative Study of the Effects of Telmisartan and Nebivolol on 24-h Ambulatory Blood Pressure and Arterial Stiffness in Patients With Arterial Hypertension Unknown status NCT02057328 Phase 4 TELMISARTAN;NEBIVOLOL
2 Immune Response to Pneumococcal Conjugate Vaccine in Adults Receiving Hepatitis A Vaccine at the Same Time Unknown status NCT01926860 Phase 4
3 The Safety and Immunogenicity of Enterovirus Type 71 Inactivated Vaccine (Human Diploid Cell) With Two Measles Attenuated Live Vaccine and Live Attenuated Japanese Encephalitis Vaccine at the Same Time Point in Infants (8-month-old) Unknown status NCT03296410 Phase 4
4 Same Lipid Lowering by Atorvastatin Versus Atorvastatin Plus Ezetimibe on Coronary Plaque Progression Unknown status NCT01086020 Phase 4 atorvastatin;atorvastatin plus ezetimibe
5 A Multicenter, Double Blind, Factorial Design, Phase IV Trial to Compare the Efficacy and Safety of Cilostazol Long-term Treatment With Aspirin in Ischemic Stroke Patients With High Risk of Cerebral Hemorrhage for the Prevention of Cerebral Hemorrhage and Cardiovascular Events and to Compare the Preventive Effect of Probucol in the Same Patient Group With Non-drug User Group for the Prevention of Cardiovascular Events Unknown status NCT01013532 Phase 4 Cilostazol;Probucol;Aspirin;placebo of cilostazol;placebo of aspirin
6 Same-day Cervical Preparation With Misoprostol Before Hysteroscopy: a Randomized Trial of Different Routes of Administration Unknown status NCT02474433 Phase 4 Misoprostol (Cytotec)
7 Prospective 24-week Study, Comparing Clinical Outcomes Between Switching Antidepressants and Maintaining the Same Antidepressant in Patients With Major Depressive Disorder Who do Not Show a 20% Reduction in Symptoms at Week 2 Unknown status NCT00519012 Phase 4 Sertraline to Paroxetine;Paroxetine to Sertraline
8 Different Routes of Misoprostol for Same-day Cervical Preparation Prior to First Trimester Surgical Abortion: a Randomized Controlled Trial Unknown status NCT02480543 Phase 4 Misoprostol (cytotec)
9 Optimal Bowel Preparation Regimen for Patients With With a History of Colorectal Resection Before Colonoscopy Unknown status NCT02761317 Phase 4 standard preparation (2L PEG-ELS);low-volume preparation (10 mg bisacodyl plus 2L PEG-ELS);high-volume preparation (4L PEG-ELS)
10 A Randomized, Double-Blind, Controlled Trial on the Homocysteine-Lowering Effects of Different Doses of Folic Acid Among Patients With Hypertension According to Methylenetetrahydrofolate Reductase C677T Genotypes Unknown status NCT03472508 Phase 4 Folic Acid;Enalapril Maleate and Folic Acid Tablets (Yiye);Enalapril
11 Comparison of Single and Combination Diuretics in Low-Renin Hypertension Unknown status NCT02351973 Phase 4 Hydrochlorthiazide;Amiloride;Hydrochlorthiazide and Amiloride
12 Effectiveness of Low Level Laser at the Auriculotherapy Points, in Reducing Postoperative Pain in Third Molar Surgery Unknown status NCT02657174 Phase 4
13 a Randomized, Double Blind, Placebo-controlled, Multicenter Clinical Trial of Efficacy and Safety of Shu Gan yi Yang Capsule in the Treatment of Depression Associated With Erectile Dysfunction (Stagnation of Liver qi and Kidney Deficiency) Unknown status NCT03290313 Phase 4 shu gan yi yang capsule;shu gan yi yang capsule simulation agent
14 A Cognitive Behavioral Therapy Group Intervention for Adolescents With Attention-Deficit / Hyperactivity Disorder Unknown status NCT02566824 Phase 4 Methylphenidate or amphetamine product
15 Random, Open-label Multicenter, Phase IV Study Assessing the Safety and Efficacy of Two Regimens of Ranibizumab 0.5 mg in Chinese Patients With Neovascular AMD Unknown status NCT02810808 Phase 4 Ranibizumab
16 Prevention of Acute Kidney Injury by N-Acetylcystein in Patients Undergone Cardiac Valve Replacement Unknown status NCT03440268 Phase 4 N Acetyl Cysteine;Placebos
17 Luteal Phase Support With Progesterone vs Estrogen and Progesterone on Pregnancy Rates in Ovarian Stimulation and Intrauterine Insemination Cycles: a Prospective Randomized Study Unknown status NCT01237535 Phase 4 Luteal support with progesterone only;Luteal support with estrogen + progesterone
18 Anticaries Effect of Probiotic Lactobacillus Brevis CD2 (Lb CD2). A Randomized Double Blind Interventional Study. Unknown status NCT01778699 Phase 4
19 Remifentanil for c-Section With General Anesthesia in Severe Preeclamptic Patients Unknown status NCT00567957 Phase 4 Remifentanil;Saline
20 Efficacy of Phenytoin in the Prophylaxis of Seizures of Patients With Pneumococcal Meningitis at Least 50 Yrs Old. A Multi-center Comparative Randomized Double-blind and Placebo-controlled Clinical Trial Unknown status NCT01478035 Phase 4 Phenytoin;placebo
21 A Double-Blind, Placebo-Controlled, Flexible-Dose Pilot Clinical Trial of Once-Daily Extended-Release Tramadol for the Treatment of PTSD Unknown status NCT01517711 Phase 4 Tramadol;Placebo
22 Treatment of Superficial Basal Cell Carcinoma by Topical Photodynamic Therapy With Fractionated 5-aminolevulinic Acid 20% Versus Two Stage Topical Photodynamic Therapy With Methylaminolevulinate Unknown status NCT01491711 Phase 4 Methylaminolevulinate PDT in 2 sessions;Fractionated 5-aminolevulinic acid hydrochloride 20% gel PDT
23 Double Ovarian Stimulation as Accumulation Strategy for Older Infertile Patients With Suboptimal Ovarian Response in Assisted Reproductive Treatment Unknown status NCT03400722 Phase 4 Pergoveris;Clomiphene
24 Double Blind Placebo Controlled Multicenter Trial for Prevention of IMT Progression in the Ischemic Stroke Patients With High Risk of Cerebral Hemorrhage With Cilostazol and Probucol Unknown status NCT02483169 Phase 4 cilostazol;Probucol;Aspirin;placebo of cilostazol;Placebo of aspirin
25 The Effect of N-acetylcysteine (NAC) on Treatment of Alcohol and Cocaine Use Disorders: A Double-Blind Randomized Controlled Trial. Unknown status NCT03018236 Phase 4 Alcohol N-acetylcysteine;Alcohol Placebo;Cocaine N-acetylcysteine;Cocaine Placebo
26 The Efficacy and Safety of Andrographolide Sulfonate in the Treatment of Acute Bronchitis: a Randomized,Double-blind,Placebo Parallel Controlled,Multicenter Study Unknown status NCT03132623 Phase 4 andrographolide sulfonate;andrographolide sulfonate simulation
27 Inspiratory Muscle Training in Patients With End Stage Renal Failure: a Randomized Controlled Trial Unknown status NCT01347775 Phase 4
28 Dexmedetomidine Influence on the Level of Perioperative Blood Glucose and Insulin of Elderly Diabetes Patients Unknown status NCT02154074 Phase 4 general anesthesia induction;Isoflurane;Dexmedetomidine;normal saline
29 Prevention of Contrast Nephropathy During Diagnostic Coronary Angiogram or PCI With Hydratation Based on LEVDP Unknown status NCT00584350 Phase 4
30 Cholestatic Drug-induced Liver Injury: Correlation With Genotypes of UGT1A1 and 1A7, and Treatment Effect of Ursodeoxycholic Acid Unknown status NCT01141322 Phase 4 Ursodeoxycholic Acid;Placebo
31 Reload of High Dose Atorvastatin for Preventing Deep Vein Thrombosis in Statin Users Undergoing Total Knee Replacement Arthroplasty: RE-STOP-DVT Study- A Prospective Randomized Controlled Trial Unknown status NCT01063426 Phase 4 High dose Atorvastatin+enoxaparin;Enoxaparin
32 Cardiopulmonary Capacity In Different Quartiles Ranges Of Reference For Serum Thyroid Stimulating Hormone (TSH): Sectional Evaluation And Effect Of The Use Of Methimazole In Elderly Population Unknown status NCT01849861 Phase 4 Methimazole
33 Effect of Mosapride on Postoperative Ileus in Patients Undergoing Colorectal Surgery Unknown status NCT02056405 Phase 4 Mosapride;Placebo
34 Botulinum Toxin to Improve Lower Blepharoplasty Scar Unknown status NCT02786550 Phase 4 Botulinum Toxin
35 Comparison of Intravenous Ibuprofen and Paracetamol in Patients With Sciatica Presented to the Emergency Department: A Randomized, Double-Blind, Controlled Trial. Unknown status NCT02777320 Phase 4 paracetamol;Ibuprofen
36 PRotective Effect on the Coronary Microcirculation of Patients With DIabetes by Clopidogrel or Ticagrelor Unknown status NCT02698618 Phase 4 Randomization
37 Effect of Postoperative Ferric Carboxymaltose After Simultaneous Bilateral Total Knee Arthroplasty : A Randomized, Controlled, Double-Blind Trial Unknown status NCT03561480 Phase 4 Ferric carboxymaltose;0.9% Normal Saline
38 Differences of Small Airways Function Between Chronic Obstructive Pulmonary Disease(COPD) and Asthma-copd Overlap(ACO) Unknown status NCT03563001 Phase 4 Budesonide(160ug) and Formoterol(4.5ug) bid
39 Effects of Non-Glucose-Based Peritoneal Dialysis Solution "EXTRANEAL" on Changes in Leptin Levels and Sympathetic Activity Induced by Conventional Glucose-Based Dialysate "DIANEAL" in Patients on Peritoneal Dialysis Unknown status NCT01228279 Phase 4
40 Endovascular Treatment Versus Optimal Medical Treatment of Atherosclerotic Renal Artery for Preserving Renal Function of the Ischemic Kidney. Unknown status NCT01208714 Phase 4 Optimal medical therapy
41 Rosuvastatin for Prevention of Deep Vein Thrombosis in Patients Undergoing Total Knee Replacement Arthroplasty: STOP DVT - A Prospective Randomized Controlled Trial Unknown status NCT01021488 Phase 4 Rosuvastatin 20mg/d for 14days;enoxaparin only
42 Graft Patency After FFR-guided Versus Angio-guided CABG: a Prospective, Multicenter, Multinational, Randomized (1:1) Controlled Trial Unknown status NCT01810224 Phase 4
43 Dexmedetomidine Combined With the Closed Loop of Target Controlled Infusion of Propofol for Anesthesia With Intraoperative Wake Up-single Center,Random,Controlled Trial Unknown status NCT02143362 Phase 4 Anesthesia induction,propofol, remifentanil ,cisatracurium;Anesthesia maintenance , propofol,remifentanil,cisatracurium
44 Open Label, Multi-center, Randomized Study to Compare of Tacrolimus and Steroids in Combination With Mycophenolate Mofetil or Without Mycophenolate Mofetil in Liver Transplantation With Hepatitis B Virus(HBsAg) Positive Unknown status NCT02075242 Phase 4 Mycophenolate Mofetil;Tacrolimus
45 Comparing Ketogenic Diet With the Most Appropriate Antiepileptic Drug- a Randomized Study of Children With Mental Retardation and Drug Resistant Epilepsy Unknown status NCT00552526 Phase 4 Antiepileptic drug (AED)
46 Evaluation of the Strategy of "One-stop" Endovascular Treatment for Concomitant Coronary Artery Disease and Aortic Atherosclerotic Disease Unknown status NCT03563768 Phase 4
47 Prospective, Randomized Clinical Trial Comparing Pain Sensation, Seroma Formation and Quality od Life Following BCT With SLND in Breast Cancer Patients Operated With Classic Versus High-frequency Electrocoagulation. Unknown status NCT01216254 Phase 4
48 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Unknown status NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
49 Phase 4 Study of Medical Therapy Versus Medical Therapy Plus Renal Artery Stenting in Preventing the Progression of Renal Failure in Atherosclerotic Renovascular Disease Unknown status NCT01023373 Phase 4 Medical treatment
50 Effects of Clomiphene Citrate Ovulation Induction on Frozen Embryo Transfer Unknown status NCT03309436 Phase 4 Clomiphene Citrate protocol

Search NIH Clinical Center for Trigonocephaly with Short Stature and Developmental Delay

Genetic Tests for Trigonocephaly with Short Stature and Developmental Delay

Anatomical Context for Trigonocephaly with Short Stature and Developmental Delay

MalaCards organs/tissues related to Trigonocephaly with Short Stature and Developmental Delay:

Bone, Prostate, Liver, Skin, Spinal Cord, Breast, Eye

Publications for Trigonocephaly with Short Stature and Developmental Delay

Articles related to Trigonocephaly with Short Stature and Developmental Delay:

# Title Authors PMID Year
Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome. 57 61
30797980 2020
Familial trigonocephaly associated with short stature and developmental delay. 57
6168197 1981
Trigonocephaly and associated minor anomalies in mother and son. 57
1271432 1976
Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment. 61
25904354 2015
A rare case of short stature: Say Meyer syndrome. 61
24251132 2013
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. 61
12567409 2003
[Say-Meyer syndrome]. 61
11528918 2001
[Say-Meyer syndrome. Report of a new case]. 61
4083633 1985

Variations for Trigonocephaly with Short Stature and Developmental Delay

ClinVar genetic disease variations for Trigonocephaly with Short Stature and Developmental Delay:

# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HUWE1 NM_031407.7(HUWE1):c.145-2A>G SNV Likely pathogenic 617512 rs1569509136 X:53674519-53674519 X:53647576-53647576

Expression for Trigonocephaly with Short Stature and Developmental Delay

Search GEO for disease gene expression data for Trigonocephaly with Short Stature and Developmental Delay.

Pathways for Trigonocephaly with Short Stature and Developmental Delay

GO Terms for Trigonocephaly with Short Stature and Developmental Delay

Sources for Trigonocephaly with Short Stature and Developmental Delay

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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