Disease #01557

Official abbreviation -
Name dysplasia, septo-optic
OMIM ID 182230
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene HESX1
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00037756 - - - F no (United Kingdom (Great Britain)) - - 0 - - 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/Caucasian - 0 - - 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
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