Disease #01557 (dysplasia, septo-optic, OMIM:182230)

Official abbreviation -
Name dysplasia, septo-optic
OMIM ID 182230
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene HESX1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00037756 - - - F no (United Kingdom (Great Britain)) - - - - - dysplasia, septo-optic ectopic posterior pituitary and bilateral optic nerve hypoplasia. ACTH, TSH and GH deficiency. Poor response to GnRH, puberty induced. KAL1 KAL1 1 1 Mark McCabe
00037758 - - variant detected in two sisters F no Australia African/white - - - - dysplasia, septo-optic elder sibling had bilateral optic nerve hypoplasia, hypoplastic optic chiasm and cavum septum pellucidum; younger sibling also presented the first two characteristics, plus a thinning corpus callosum, anterior pituitary hypoplasia and an absent posterior pituitary. KAL1 KAL1 1 2 Mark McCabe
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.