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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandAgenesis of Corpus Callosum (D061085)
..Starting node
..expandBen Ari Shuper Mimouni syndrome (C535427)

       Child Nodes:



 Sister Nodes: 
..expandAbsent corpus callosum cataract immunodeficiency (C535566)
..expandAcrocallosal Syndrome (D055673) Child1
..expandAicardi Syndrome (D058540) Child1
..expandBen Ari Shuper Mimouni syndrome (C535427)
..expandCalloso-genital dysplasia (C537962)
..expandCAMFAK syndrome (C537965)
..expandChudley-Mccullough syndrome (C535459)
..expandCombined Oxidative Phosphorylation Deficiency 2 (C566468)
..expandCorpus callosum agenesis neuronopathy (C536446)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCorpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
..expandCorpus Callosum, Partial Agenesis of, X-Linked (C564115)
..expandCuratolo Cilio Pessagno syndrome (C536701)
..expandDonnai-Barrow syndrome (C536390)
..expandDuker Weiss Siber syndrome (C535719)
..expandEctodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum (C565605)
..expandFaye-Petersen Ward Carey syndrome (C537076)
..expandHoloprosencephaly (D016142) Child22
..expandKozlowski Ouvrier syndrome (C537508)
..expandLissencephaly and agenesis of corpus callosum (C531731)
..expandMedian cleft lip, corpus callosum, lipoma, and skin polyps (C536135)
..expandMicrocephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..expandNakamura Osame syndrome (C538335)
..expandOpitz-Kaveggia syndrome (C537923)
..expandOsteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..expandPartial agenesis of corpus callosum (C536111)
..expandProud Syndrome (C563110)
..expandRecurrent spontaneous hypothermia with hypoplasia of the corpus callosum (C559045)
..expandSaal Bulas syndrome (C537193)
..expandSakoda Complex (C567055)
..expandShapiro syndrome (C537594)
..expandShort Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989)
..expandStargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086)
..expandTemtamy syndrome (C536959)
..expandThrombocytopenia Robin sequence (C536898)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1215
Name:Ben Ari Shuper Mimouni syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D061085
TreeNumbers:C10.500.034/C535427 |C16.131.077/C535427 |C16.131.666.034/C535427 |C23.300.008/C535427
Synonyms:
Slim Mappings:Congenital abnormality|Nervous system disease|Pathology (anatomical condition)
Reference: MedGen: C535427
MeSH: C535427
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants