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Gomez Lopez Hernandez syndrome MeSH Supplementary Concept Data 2023


MeSH Supplementary
Gomez Lopez Hernandez syndrome
Unique ID
C537285
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537285
Entry Term(s)
Cerebellotrigeminal dermal dysplasia
Cerebellotrigeminal-dermal dysplasia
GLH Syndrome
Gomez-Lopez-Hernandez Syndrome
Registry Number
0
Heading Mapped to
*Abnormalities, Multiple
*Alopecia
Cerebellum / *abnormalities
*Growth Disorders
Rhombencephalon
*Craniofacial Abnormalities
*Neurocutaneous Syndromes
Frequency
29
Note
A rare neurocutaneous syndrome that occurs sporadically. It is characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia (an inconsistent finding), often giving rise to corneal opacities, and bilateral parietal or parietooccipital ALOPECIA. OMIM: 601853
Date of Entry
2010/08/25
Revision Date
2015/09/26
Gomez Lopez Hernandez syndrome Preferred
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