Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

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Name:
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Description:
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.
ORPHAcode:
363992
Synonyms:
15q26.3 microdeletion syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14