*  Acrocallosal syndrome - Wikipedia
... rarediseases.info.nih.gov/gard/5721/acrocallosal-syndrome-schinzel-type/resources/1 Acrocallosal syndrome, Schinzel type at ... The syndrome was first described by Albert Schinzel in 1979. It is associated with GLI3. Acrocallosal syndrome (ACLS, ACS, ... Acrocallosal syndrome (also known as ACLS) is a rare autosomal recessive syndrome characterized by corpus callosum agenesis, ... Elson E.; Perveen R.; Donnai D.; Wall S.; Black G.C.M. (2002). "De novo GLI3 mutation in acrocallosal syndrome:broadening the ...
  https://en.wikipedia.org/wiki/Acrocallosal_syndrome
*  Outcomes of planned home births with certified professional midwives: large prospective study in North America | The BMJ
Acrocallosal syndrome. Trisomy 13 Other causes (n = 6):. Term pregnancy, average labour. Apgar scores 6/2. Transported ... Sudden infant death syndrome. Post-term pregnancy, 42 weeks two days age based on clinical data as mother not aware of last ... Died at five days in hospital, sudden infant death syndrome. Term pregnancy, transport at first assessment because of ...
  https://www.bmj.com/content/330/7505/1416.full?rss=
*  Gait disorder and Loss of balance and Optic atrophy - Symptom Checker - check medical symptoms at RightDiagnosis
6. Achalasia -- adrenal -- alacrima syndrome. 7. Ackerman syndrome. 8. Acoustic neuroma. 9. Acrocallosal Syndrome (Schinzel ... 3. Absence of septum pellucidum with porencephalia syndrome. 4. Acanthamoeba infection. 5. Acanthamoeba infection of the ...
  http://wrongdiagnosis.com/cosymptoms/gait-disorders/loss-of-balance/optic-atrophy.htm
*  Blood vessel symptoms and Dacryoadenitis - Symptom Checker - check medical symptoms at RightDiagnosis
4. Acrocallosal Syndrome (Schinzel Type). 5. Adrenal Cancer. 6. Adrenal Cortex Neoplasms. 7. Adrenal adenoma, familial. 8. ... Vessel syndrome *more symptoms...» Broaden Your Search: Remove a Symptom. *REMOVE Blood vessel symptoms ...
  https://wrongdiagnosis.com/cosymptoms/blood-vessel-symptoms/dacryoadenitis.htm
*  Blood vessel symptoms and Edema - Symptom Checker - check medical symptoms at RightDiagnosis
3. Aagenaes syndrome. 4. Acanthocheilonemiasis. 5. Accelerated hypertension. 6. Acrocallosal Syndrome (Schinzel Type). 7. Acute ... 6. Inherited Hemolytic-Uremic Syndrome. 7. Kawasaki disease. 8. Non-diarrheal (D-) HUS syndrome. 9. Polyarteritis nodosa. 10. ... Vessel syndrome *more symptoms...» Broaden Your Search: Remove a Symptom. *REMOVE Blood vessel symptoms ...
  http://wrongdiagnosis.com/cosymptoms/blood-vessel-symptoms/edema.htm
*  Mouth symptoms - RightDiagnosis.com
Acrocallosal syndrome ... short philtrum*Acrocallosal Syndrome (Schinzel Type) ... cleft palate, cleft lip* ... Aarskog-Ose-Pande syndrome ... delayed tooth eruption*Aase Smith syndrome ... cleft lip*Aase Syndrome ... Cleft lip*Aase-Smith ... Bamforth syndrome ... small jaw, cleft palate*Banti Syndrome ... blood in vomit*Banti's syndrome ... blood in vomit*Baraitser- ... Alpine syndrome ... vomiting*Alport Syndrome ... thin upper lip, cough, small lower jaw, highly arched palate*Alport syndrome ...
  https://www.rightdiagnosis.com/sym/mouth_symptoms.htm
*  Bone symptoms - RightDiagnosis.com
Acro-reno-ocular syndrome ... polydactyly*Acrocallosal syndrome ... tapered fingers*Acrocapitofemoral dysplasia ... narrow ... Burn-McKeown syndrome ... small jaw*Buttiens-Fryns syndrome ... recessed jaw, small jaw, arm defects. C. *C-like syndrome ... ... 47 XYY syndrome ... sunken chest, asymmetrical face*47,XXX syndrome ... small lower jaw*49,XXXXY syndrome ... knock-knee, coxa ... 8p-Syndrome, partial ... recessed jaw, small jaw. A. *Aarskog Syndrome ... brachydactyly*Abderhalden-Kaufmann-Lignac syndrome ...
  https://www.rightdiagnosis.com/sym/bone_symptoms.htm
*  Musculoskeletal symptoms - RightDiagnosis.com
Acrocallosal syndrome ... reduced muscle tone*Acrocephalosyndactyly type 3 (ACPS 3) ... limited elbow extension*Acrodynia ... ... Bruck syndrome ... brittle bones*Bruck syndrome 1 ... brittle bones*Bruck syndrome, 2 ... brittle bones*Brun's syndrome ... ... 14q+ syndrome - reduced muscle tone *14qter deletion Syndrome - reduced muscle tone *18p minus syndrome - hip dislocation *1q ... Ehlers-Danlos syndrome Type I ... hip dislocation*Ehlers-Danlos syndrome type IV ... muscle rupture*Ehlers-Danlos syndrome type ...
  http://www.rightdiagnosis.com/sym/musculoskeletal_symptoms.htm
*  Umbilical hernia - RightDiagnosis.com
Acrocallosal syndrome - umbilical hernia *Acrocephalopolysyndactyly, type 2 (ACPS 2) - umbilical hernia *Aflatoxin B1- ... Urban Roger Meyer syndrome ... Umbilical hernia. V. *Velocardiofacial syndrome ... umbilical hernia. W. *Weaver Syndrome ... ... Kosztolanyi syndrome ... umbilical hernia. L. *Lateral meningocele syndrome ... umbilical hernia. M. *Marshall-Smith Syndrome ... Edward Syndrome ... umbilical hernia*Ehlers-Danlos syndrome, VIIB ... umbilical hernia*Elliott-Ludman-Teebi syndrome ... ...
  http://www.rightdiagnosis.com/sym/umbilical_hernia.htm
*  Muscle symptoms - RightDiagnosis.com
Acro-reno-ocular syndrome ... drooping upper eyelid*Acrocallosal syndrome ... seizures, reduced muscle tone*Acrocallosal ... 14q+ syndrome - reduced muscle tone *14qter deletion Syndrome - reduced muscle tone *18p minus syndrome - reduced muscle tone * ... 14q+ syndrome ... reduced muscle tone*14qter deletion Syndrome ... reduced muscle tone, droopy eyelids*18p minus syndrome ... ... 47 XYY syndrome ... weakness*47,XXX syndrome ... poor coordination, reduced muscle tone, clumsiness*49,XXXXY syndrome ... ...
  http://www.rightdiagnosis.com/sym/muscle_symptoms.htm
*  Pallister-Hall Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
acrocallosal syndrome 10.2. GLI3 KIF7 24. polydactyly, preaxial iv 10.1. 25. renal hypodysplasia/aplasia 1 10.1. ... MalaCards integrated aliases for Pallister-Hall Syndrome:. Name: Pallister-Hall Syndrome 53 12 23 49 24 71 36 28 13 51 41 14 69 ... MalaCards organs/tissues related to Pallister-Hall Syndrome:. 38 Pituitary, Kidney, Skin, Brain, Heart, Testes, Thyroid ... Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. ( 10945658 ) ...
  http://www.malacards.org/card/pallister_hall_syndrome
*  Cleft lip - RightDiagnosis.com
Achard syndrome ... cleft lip*Acrocallosal Syndrome (Schinzel Type) ... cleft lip*Acrofacial dysostosis atypical postaxial ... ... Grob syndrome ... cleft lip. H. *Hardikar syndrome ... cleft lip*Hay-Wells Syndrome ... cleft lip*Hay-Wells syndrome, recessive ... Weaver Syndrome ... Cleft lip*Whelan syndrome ... cleft lip*Wolf-Hirschorn syndrome ... Cleft lip. Y. *Yim Ebbin syndrome ... ... Fryns Syndrome ... cleft lip. G. *Gene-Wiedemann syndrome ... cleft lip*German syndrome ... cleft lip*Gollop syndrome ... cleft ...
  https://www.rightdiagnosis.com/sym/cleft_lip.htm
*  Anencephaly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
acrocallosal syndrome 11.1. 12. hydrolethalus syndrome 2 10.9. 13. vangl1-related neural tube defect 10.8. ... Discordant anencephaly and Cantrell syndrome in monozygotic twins conceived by ICSI and IVF-ET. ( 23915871 ) ... Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? ( ... A review of the craniofacial teratoma syndrome. ( 25360518 ) ... EP01.10: Amniotic band syndrome mimicking isolated anencephaly ...
  http://www.malacards.org/card/anencephaly
*  Page 194 - 30917 ASHG Complete
... syndromes.,S.,Thomas,,A.,Putoux,,K.,L.,M.,Coene,,E.,Davis,,Y.,Alanay,,G.,Ogur,,Munnich,,V.,Cormier-Daire,,R.,Hennekam,,Colin,,N ... hydrolethalus and acrocallosal syndromes. S. Thomas, A. Putoux, K. L. M. Coene, E. E. Davis, Y. Alanay, G. Ogur, ...
  http://www.ashg.org/2011meeting/program_guide/files/assets/seo/page195.html
*  Eczematous seborrheic dermatitis and Learning disability - Symptom Checker - check medical symptoms at RightDiagnosis
2. 47 XYY syndrome. 3. 47,XXX syndrome. 4. 49,XXXXX syndrome. 5. Acidemia, propionic. 6. Acrocallosal Syndrome (Schinzel Type) ... 1. DiGeorge syndrome. Show causes with descriptions ». , Start Again ». Note: Do not use for diagnosis; see limitations of ...
  http://wrongdiagnosis.com/cosymptoms/eczematous-seborrheic-dermatitis/learning-disability.htm
*  National Organization of Disorders of the Corpus Callosum National Organization of Disorders of the Corpus Callosum » National...
Acrocallosal Syndrome: genetic disorder in which individuals have large heads, agenesis of the corpus callosum, and finger and ... Aicardi Syndrome: a genetic syndrome in which girls have agenesis of the corpus callosum, as well as eye and other brain ... Fetal Alcohol Syndrome: medical condition in which a fetus is exposed to alcohol and subsequently exhibits a pattern of unusual ... Andermann Syndrome: a condition in which individuals (almost exclusively found in the certain part of Quebec) have agenesis of ...
  https://nodcc.org/corpus-callosum-disorders/glossary/
*  Protocols and Video Articles Authored by Erica E. Davis (Translated to Turkish)
KIF7 Mutations Cause Fetal Hydrolethalus and Acrocallosal Syndromes Nature Genetics. Jun, 2011 , Pubmed ID: 21552264 KIF7, the ... Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation ... HSCR also presents in various syndromes, including Shah-Waardenburg syndrome (WS), Down (DS), and Bardet-Biedl (BBS). Here, we ... Jul, 2010 , Pubmed ID: 20512146 Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. ...
  https://www.jove.com/author/Erica+E._Davis?language=Turkish
*  Anti-Gli3 antibody (ab69838) | Abcam
Defects in GLI3 are the cause of acrocallosal syndrome (ACS) [MIM:200990]; also abbreviated ACLS. ACS is characterized by ... Defects in GLI3 are a cause of Pallister-Hall syndrome (PHS) [MIM:146510]. PHS is characterized by a wide range of clinical ... Defects in GLI3 are the cause of Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]. GCPS is an autosomal dominant ...
  http://www.abcam.com/Gli3-antibody-ab69838.html
*  S.F.R - Structure Fédérative de Recherche
Putoux A et al.KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet. 2011 Jun. ...
  http://www.necker.fr/sfr-necker/index.php?menu=platforms&lang=uk&faculty_id=8&partner_id=9&sendmail=1
*  List of OMIM disorder codes - Wikipedia
CNGB3 Acrocallosal syndrome; 200990; GLI3 Acrocapitofemoral dysplasia; 607778; IHH Acrodermatitis enteropathica; 201100; ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
  https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes
*  Leg symptoms and Tardive dyskinesia - Symptom Checker - check medical symptoms at RightDiagnosis
Acro-reno-ocular syndrome. 43. Acrocallosal Syndrome (Schinzel Type). 44. Acrocephalopolydactyly. 45. Acrocephalopolydactyly ... FACWA syndrome. 1089. FG Syndrome. 1090. FG syndrome 1. 1091. FG syndrome 2. 1092. FG syndrome 3. 1093. FG syndrome 4. 1094. FG ... Bamforth syndrome. 250. Bangstad syndrome. 251. Banki syndrome. 252. Baraitser burn fixen syndrome. 253. Barakat syndrome. 254 ... 49,XXXXY syndrome. 11. 4p16.3 deletion. 12. ACPS III. 13. ADHD. 14. ARTS syndrome. 15. Aagenaes syndrome. 16. Aarskog Syndrome ...
  http://symptoms.rightdiagnosis.com/cosymptoms/leg-symptoms/tardive-dyskinesia-sall.htm
*  WikiGenes - GLI3 - GLI family zinc finger 3
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine ... Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X ... Pregnancy-associated plasma protein A as a marker of acute coronary syndromes. Bayes-Genis, A., Conover, C.A., Overgaard, M.T ... Serum screening for Down's syndrome between 8 and 14 weeks of pregnancy. International Prenatal Screening Research Group. Wald ...
  https://www.wikigenes.org/e/gene/e/2737.html
*  Targets
Acrocallosal syndrome. 1 , 12 Aortic valve disease 2. 1 , 2 Apraxia. 1 , 25 ...
  https://pharos.nih.gov/idg/targets?facet=Jensen-TM+Tissue/Pelvic+fin
*  BMJ Article | SD Docs for Midwives
Acrocallosal syndrome. Trisomy 13 Other causes (n = 6):. Term pregnancy, average labour. Apgar scores 6/2. Transported ... Sudden infant death syndrome. Post-term pregnancy, 42 weeks two days age based on clinical data as mother not aware of last ... Died at five days in hospital, sudden infant death syndrome. Term pregnancy, transport at first assessment because of ...
  http://sddocsformidwives.org/node/23