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hamel cerebro-palato-cardiac syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.
Mondo Term and Equivalent IDs
MONDO:0019767:  hamel cerebro-palato-cardiac syndrome
Orphanet:93946: 
UMLS:CN206702: