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Ochoa syndrome

Disease Export to PDF
Name:
Ochoa syndrome
Description:
A rare syndromic urinary tract malformation characterized by the association of severe voiding dysfunction and inversion of facial expression when the child smiles or cries.
ORPHAcode:
2704
Synonyms:
Hydronephrosis-inverted smile syndrome
Inverted smile-neurogenic bladder syndrome
Partial facial palsy with urinary abnormalities
Urofacial syndrome
XREF(s):
Orphanet
MeSH
OMIM
OMIM
ICD-10
Analyte(s):
HPSE2
LRIG2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14