MCID: OCL033
MIFTS: 45

Oculocerebral Syndrome with Hypopigmentation

Categories: Rare diseases, Eye diseases, Skin diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Oculocerebral Syndrome with Hypopigmentation

MalaCards integrated aliases for Oculocerebral Syndrome with Hypopigmentation:

Name: Oculocerebral Syndrome with Hypopigmentation 57 53 73
Cross Syndrome 57 53 59 73
Kramer Syndrome 57 53
Oculocerebral Hypopigmentation Syndrome, Cross Type 59
Oculocerebral Hypopigmentation Syndrome Type Preus 73
Hypopigmentation Oculocerebral Syndrome Cross Type 53
Oculocerebral Hypopigmentation Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
oculocerebral syndrome with hypopigmentation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Oculocerebral Syndrome with Hypopigmentation

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2719Disease definitionOculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.Visit the Orphanet disease page for more resources.

MalaCards based summary : Oculocerebral Syndrome with Hypopigmentation, also known as cross syndrome, is related to oculocerebral hypopigmentation syndrome of preus and acrodermatitis enteropathica, zinc-deficiency type. The drugs Ertapenem and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and heart, and related phenotypes are nystagmus and intellectual disability

Wikipedia : 76 Cross–McKusick–Breen syndrome (also known as \"Cross syndrome\", \"hypopigmentation and... more...

Description from OMIM: 257800

Related Diseases for Oculocerebral Syndrome with Hypopigmentation

Diseases related to Oculocerebral Syndrome with Hypopigmentation via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 oculocerebral hypopigmentation syndrome of preus 12.4
2 acrodermatitis enteropathica, zinc-deficiency type 10.9
3 autism 9.7
4 autism spectrum disorder 9.6
5 williams-beuren syndrome 9.5
6 down syndrome 9.5
7 developmental coordination disorder 9.5
8 developmental dyspraxia 9.5
9 angelman syndrome 9.3
10 smith-magenis syndrome 9.3
11 tuberous sclerosis 1 9.3
12 anxiety 9.3
13 potocki-lupski syndrome 9.3
14 tuberous sclerosis 9.3

Graphical network of the top 20 diseases related to Oculocerebral Syndrome with Hypopigmentation:



Diseases related to Oculocerebral Syndrome with Hypopigmentation

Symptoms & Phenotypes for Oculocerebral Syndrome with Hypopigmentation

Symptoms via clinical synopsis from OMIM:

57
Neuro:
spasticity
mental retardation
athetoid movements
dandy-walker cyst

Skin:
hypopigmentation
silver-gray hair color

Growth:
growth retardation

Eyes:
ocular anomalies


Clinical features from OMIM:

257800

Human phenotypes related to Oculocerebral Syndrome with Hypopigmentation:

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
4 spasticity 59 32 Frequent (79-30%) HP:0001257
5 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
6 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
7 abnormal pyramidal signs 59 32 frequent (33%) Frequent (79-30%) HP:0007256
8 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
9 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
10 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
11 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
12 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
13 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
14 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
15 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
16 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
17 abnormality of the eye 59 32 Frequent (79-30%) HP:0000478
18 abnormality of vision 59 32 frequent (33%) Frequent (79-30%) HP:0000504
19 spastic tetraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0002510
20 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
21 abnormality of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001172
22 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
23 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
24 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
25 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
26 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
27 growth delay 59 32 Frequent (79-30%) HP:0001510
28 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
29 hypopigmentation of hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0005599
30 arachnodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001166
31 abnormality of the voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001608
32 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
33 abnormality of extrapyramidal motor function 59 32 frequent (33%) Frequent (79-30%) HP:0002071
34 aplasia/hypoplasia affecting the eye 59 32 frequent (33%) Frequent (79-30%) HP:0008056
35 dandy-walker malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001305
36 abnormality of bone marrow cell morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005561
37 choroideremia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001139
38 ectropion 59 32 frequent (33%) Frequent (79-30%) HP:0000656
39 ocular albinism 59 32 frequent (33%) Frequent (79-30%) HP:0001107
40 athetosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002305
41 ureteral stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000071
42 abnormality of movement 59 Frequent (79-30%)
43 abnormality of the palate 59 Very frequent (99-80%)
44 abnormality of the urinary system 59 Occasional (29-5%)
45 iris hypopigmentation 59 Occasional (29-5%)
46 hypopigmentation of the skin 32 HP:0001010
47 silver-gray hair 32 HP:0002218
48 abnormal palate morphology 32 hallmark (90%) HP:0000174

Drugs & Therapeutics for Oculocerebral Syndrome with Hypopigmentation

Drugs for Oculocerebral Syndrome with Hypopigmentation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1778)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
3
Voriconazole Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 137234-62-9 71616
4
Amitriptyline Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-48-6 2160
5
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 60142-96-3 3446
6
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 56-12-2 119
7
Perphenazine Approved Phase 4,Phase 2,Not Applicable 58-39-9 4748
8
Clopidogrel Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 120202-66-6, 113665-84-2 60606
9
Ramipril Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 87333-19-5 5362129
10
Ticlopidine Approved Phase 4,Phase 2,Phase 1,Not Applicable 55142-85-3 5472
11
Cimetidine Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 51481-61-9 2756
12
Albendazole Approved, Vet_approved Phase 4,Not Applicable 54965-21-8 2082
13
Cyproheptadine Approved Phase 4,Phase 2 129-03-3 2913
14
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 75614-87-8, 51-45-6 774
15
Nicotine Approved Phase 4,Phase 1,Phase 2,Not Applicable 54-11-5 942 89594
16
Furosemide Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 54-31-9 3440
17
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-93-5 3639
18
Eplerenone Approved Phase 4,Phase 3 107724-20-9 150310 443872
19
Spironolactone Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1952-01-7, 52-01-7 5833
20
Abciximab Approved Phase 4 143653-53-6
21
Saxagliptin Approved Phase 4,Phase 3,Phase 1 361442-04-8 11243969
22
Capsaicin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 404-86-4 1548943
23
Glimepiride Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 93479-97-1 3476
24
Oxymetazoline Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1491-59-4 4636
25
Phenylephrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59-42-7 6041
26
Ezetimibe Approved Phase 4 163222-33-1 150311
27
Glatiramer Acetate Approved, Investigational Phase 4,Phase 1 147245-92-9 3081884
28 Piracetam Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 7491-74-9
29
Cilostazol Approved, Investigational Phase 4,Early Phase 1 73963-72-1 2754
30
Chlorhexidine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 55-56-1 9552079 2713
31
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 9004-61-9 53477741
32
Fluticasone Approved, Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 90566-53-3 62924
33
Piperacillin Approved Phase 4 66258-76-2 43672
34
Sulbactam Approved Phase 4 68373-14-8
35
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 657-24-9 14219 4091
36
Bimatoprost Approved, Investigational Phase 4,Phase 3,Not Applicable 155206-00-1 5311027
37
Ephedrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 299-42-3 9294
38
Pseudoephedrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 90-82-4 7028
39
Teriparatide Approved, Investigational Phase 4,Phase 2,Phase 1 52232-67-4 16133850
40
4-Aminopyridine Approved Phase 4,Phase 2,Phase 3 504-24-5 1727
41
Citalopram Approved Phase 4,Phase 2,Phase 1,Not Applicable 59729-33-8 2771
42
Paroxetine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 61869-08-7 43815
43
Ticagrelor Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 274693-27-5 9871419
44
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
45
Mannitol Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 69-65-8 453 6251
46
Procaine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 59-46-1 4914
47
Allopurinol Approved Phase 4,Phase 2,Phase 1 315-30-0 2094
48
Ustekinumab Approved, Investigational Phase 4,Phase 3 815610-63-0
49
Pyrimethamine Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 58-14-0 4993
50
Sulfadoxine Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 2447-57-6 17134

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 Study of the Molecular Mechanisms Underlying the Cross-neutralizing Capacity of AS04-adjuvanted HPV Vaccine (Cervarix®) in Comparison With the Aluminiumhydroxyphosphate Sulphate Adjuvanted HPV Vaccine (Gardasil®) Unknown status NCT01914367 Phase 4
2 A Prospective, Placebo Controlled, Double-Blind, Cross-over Study on the Effects of a Probiotic Preparation (VSL#3) on Metabolic Profile, Intestinal Permeability, Microbiota, Cytokines and Chemokines Expression and Other Inflammatory Markers in Pediatric Unknown status NCT01632462 Phase 4 VSL#3
3 Safety of Ertapenem in Beta-lactam Allergic Patients. Unknown status NCT01159379 Phase 4 ertapenem
4 Voriconazole for IPA in Chinese Patients With COPD Unknown status NCT02234739 Phase 4 Voriconazole
5 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
6 A Randomized Cross Over Trial of Two Treatments for Obstructive Sleep Apnea in Veterans With Post Traumatic Stress Disorder Unknown status NCT01535586 Phase 4
7 CXL-04 A Study of Collagen Crosslinking With Ultraviolet-A in Asymmetric Corneas Unknown status NCT01956474 Phase 4
8 Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4 melatonin;placebo
9 Pharmacodynamic Comparison of Rosuvastatin Versus Atorvastatin on Platelet Reactivity in Patients With Coronary Artery Disease on Dual Antiplatelet Therapy With New P2Y12 Inhibitors (Trial gRANADa) Unknown status NCT02030054 Phase 4 Atorvastatin;Rosuvastatin
10 Ramipril and Clopidogrel in Oxidative Stress, Vascular Inflammation and Endothelial Dysfunction in Type 2 Diabetes and Diabetic Nephropathy Unknown status NCT01743014 Phase 4 Ramipril;Clopidogrel
11 Dissecting the Role of Distal Embolization of Athero-thrombotic Material in Primary PCI: the ThrombOticBurden and mIcrovAscularobStruction (TOBIAS) Study. Unknown status NCT01914055 Phase 4
12 Bone Forming at Prosthetic Surfaces. Fingerprint2 Unknown status NCT01623687 Phase 4
13 Impact of Alternative Treatment Strategies and Delivery Systems for Soil-transmitted Helminths in Kenya Unknown status NCT02397772 Phase 4 albendazole
14 Cyproheptadine as an Appetite Stimulant Unknown status NCT01314989 Phase 4 Cyproheptadine;Sugar pill
15 Dapagliflozin in Type 1 Diabetes Unknown status NCT02211742 Phase 4 Dapagliflozin
16 Clinical Trial to Compare Effectiveness of Diuretics in Hemodialysis Patients With Residual Renal Function Unknown status NCT01977430 Phase 4 Hydrochlorothiazide and furosemide
17 Diurnal Variation of Plasminogen Activator Inhibitor-1 Unknown status NCT00515021 Phase 4 Eplerenone (Morning vs. evening drug regimen)
18 Randomized Trial of Standard vs ClearWay-infused Abciximab and Thrombectomy for Myocardial Infarction Unknown status NCT01499407 Phase 4 Abciximab
19 Study on Exploring the Effect of DPP-4 Inhibitors on β-cell Function by Using the Two-step Hyperglycemic Clamp Unknown status NCT02386943 Phase 4 Sitagliptin;Saxagliptin;Blank control
20 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
21 Study With Rupatadine in Mosquito-Bite Allergic Adult Subjects Unknown status NCT00258141 Phase 4 Rupatadine;Placebo
22 Comparative Study of Sinol and Sinol-M in Patients With Congestion Due to Allergic Rhinitis Unknown status NCT00825656 Phase 4 Sinol or Sinol-M nasal spray
23 Study of Comparing the Different Effect of DPP-4 Inhibitors and Sulfonylurea by Using "Biphase-Hyperglycemic Clamp" Unknown status NCT01660386 Phase 4 Sitagliptin;Saxagliptin;Glimepiride;Blank control
24 A Study Evaluating the Effects of Lipid Lowering Treatment on Steroid Synthesis Unknown status NCT00433823 Phase 4 Atorvastatin, Ezetimibe
25 Optical Coherence Tomography: Glatiramer in Clinically Isolated Syndrome or Early Relapsing Remitting Multiple Sclerosis (MS) Unknown status NCT00910598 Phase 4 glatiramer acetate
26 A Clinical Study Comparing the Comfort of Three Commercially Available Contact Lenses Unknown status NCT02298400 Phase 4
27 Levetiracetam Treatment of Children With Subclinical Sleep-Activated Epileptiform Activity (SSEA) Unknown status NCT00393614 Phase 4 levetiracetam
28 Physiological Response to Heliox21 and Air O2 Unknown status NCT01498432 Phase 4 Heliox21;Air O2
29 Study to Investigate the Effect of Heart Rate Reduction With Ivabradine on Vascular Elastic Properties and Endothelial Function in Patients With Stable Coronary Heart Disease Unknown status NCT01768585 Phase 4 Ivabradine;Placebo
30 Effects of Cilostazol on Plasma Adipocytokine and Arterial Stiffness Unknown status NCT00573950 Phase 4 cilostazol;Placebo
31 Efficacy and Safety of a Commercially Available Injectable Hyaluronic Acid Dental Filler for Periodontal Pockets Unknown status NCT02391974 Phase 4
32 Fluticasone/Salmeterol (FP/SM) Versus Double the Dose Fluticasone (FP) in Patients With Mild to Moderate Asthma Unknown status NCT00830505 Phase 4 fluticasone/ salmeterol;fluticasone
33 Piperacillin Sodium and Sulbactam Sodium for Injection(2:1) for Treatment of Respiratory and Urinary System Infection Unknown status NCT01760109 Phase 4 Piperacillin Sodium and Sulbactam Sodium
34 4-point vs 4-roll Canne as Walking Aids After Stroke Unknown status NCT02279069 Phase 4
35 Study of Immune Responses After Vaccination Against Seasonal Influenza Virus and Against Influenza H1N1-v Pandemic Virus in a Medical Staff. Unknown status NCT01063608 Phase 4
36 Prucalopride Versus Placebo in Gastroparesis Unknown status NCT02510976 Phase 4 prucalopride;placebo
37 Comparison Study of 3-4-screws-internal Fixation With Multi-screw-system Targon FN for Femoral Neck Fracture Unknown status NCT00829725 Phase 4
38 Effect of Dapagliflozine on Systemic and Renal Endothelial Function Unknown status NCT02501616 Phase 4 Metformin;Dapagliflozin
39 Investigation of IOP and Tolerability of Bimatoprost 0.01% and Tafluprost Unit Dose Preservative Free 15 Microgram/ml Unknown status NCT02471105 Phase 4 Preserved Bimatoprost 0.01%;Tafluprost Unit Dose Preservative Free 15microgram/ml
40 Clinical Comparison of Efficacy and Safety of Two Teriparatide Formulations: Osteofortil and Forteo Unknown status NCT01945788 Phase 4 Teriparatide (rDNA origin)
41 Resistance Training and Amino Pyridine in Multiple Sclerosis Unknown status NCT02143167 Phase 4 SR-fampridine;Placebo
42 Clinical Pharmacogenomics of Antidepressant Response Unknown status NCT00269334 Phase 4 Using Citalopram(drug) or Paroxetine(drug)
43 Platelet Resistance With Ticagrelor or Standard-Dose Clopidogrel Among CKD and ACS Patients Unknown status NCT02459288 Phase 4 Clopidogrel first;Ticagrelor first
44 A Clinical Study to Evaluate the Efficacy and Safety of HA IDF II Plus Versus HA IDF II in Nasolabial Fold Injection Unknown status NCT02340078 Phase 4
45 Prospective Evaluation of Stent Patency in Patients With Benign Biliary Obstruction of the Wing Biliary Stent (Viaduct™) Unknown status NCT01818050 Phase 4
46 Evaluate the Effects of Formoterol and Beclomethasone Dipropionate Combination Therapy on Small Airways Function Unknown status NCT01466712 Phase 4 Tiotropium + formoterol/beclometasone;tiotropium + placebo
47 Comparison of the Effects of Crystalloid Cardioplegia and HTK Solution for Postoperative Troponin-I and CK-MB Levels After Pediatric Cardiac Surgery Unknown status NCT01548872 Phase 4 HTK solution;crystalloid cardioplegia solution
48 Microalbuminuria and Allopurinol in Type 1 Diabetes Unknown status NCT02829177 Phase 4 Allopurinol;Placebo
49 A Study to Evaluate the Effectiveness of STELARA ™ (USTEKINUMAB) in the Treatment of Scalp Psoriasis Unknown status NCT01558310 Phase 4 Ustekinumab;Placebo
50 Evaluation of SP Resistance and Effectiveness of IPTp in Nigeria Unknown status NCT01636895 Phase 4 Efficacy of suphladoxine/pyrimethamine as IPTp;Efficacy of suphladoxine/pyrimethamine as IPTp

Search NIH Clinical Center for Oculocerebral Syndrome with Hypopigmentation

Genetic Tests for Oculocerebral Syndrome with Hypopigmentation

Anatomical Context for Oculocerebral Syndrome with Hypopigmentation

MalaCards organs/tissues related to Oculocerebral Syndrome with Hypopigmentation:

41
Testes, Brain, Heart, Lung, Bone, Kidney, Eye

Publications for Oculocerebral Syndrome with Hypopigmentation

Articles related to Oculocerebral Syndrome with Hypopigmentation:

(show all 14)
# Title Authors Year
1
Sensory and motor differences in Autism Spectrum Conditions and developmental coordination disorder in children: A cross-syndrome study. ( 29408162 )
2018
2
The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison. ( 29329513 )
2018
3
A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex. ( 29490614 )
2018
4
Overlapping Phenotypes in Autism Spectrum Disorder and Developmental Coordination Disorder: A Cross-Syndrome Comparison of Motor and Social Skills. ( 27126816 )
2016
5
Cross-syndrome comparison of real-world executive functioning and problem solving using a new problem-solving questionnaire. ( 27521717 )
2016
6
Motor deficits in children with autism spectrum disorder: a cross-syndrome study. ( 25258309 )
2014
7
Cross syndrome comparison of sleep problems in children with Down syndrome and Williams syndrome. ( 23475007 )
2013
8
Anxiety and repetitive behaviours in autism spectrum disorders and williams syndrome: a cross-syndrome comparison. ( 21424863 )
2012
9
A cross-syndrome study of the development of holistic face recognition in children with autism, Down syndrome, and Williams syndrome. ( 19193384 )
2009
10
Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case. ( 1544218 )
1992
11
Oculocerebral syndrome with hypopigmentation (Cross syndrome): the mixed pattern of hair pigmentation as an important diagnostic sign. ( 1801851 )
1991
12
Oculocerebral syndrome with hypopigmentation (Cross syndrome). Report of two siblings born to consanguineous parents. ( 3191612 )
1988
13
Oculocerebral syndrome with hypopigmentation. ( 819056 )
1975
14
A new oculocerebral syndrome with hypopigmentation. ( 4959856 )
1967

Variations for Oculocerebral Syndrome with Hypopigmentation

Expression for Oculocerebral Syndrome with Hypopigmentation

Search GEO for disease gene expression data for Oculocerebral Syndrome with Hypopigmentation.

Pathways for Oculocerebral Syndrome with Hypopigmentation

GO Terms for Oculocerebral Syndrome with Hypopigmentation

Sources for Oculocerebral Syndrome with Hypopigmentation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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