Welcome!

Welcome! We begin this website today, September 26th, 2013, in order to draw attention to the current Government of Romania, the current Prime Minister Victor Ponta, the current Minister of Health (not a priest or a doctor, but an accountant, Mr. Eugen Nicolăescu), the Commission of Rare Diseases (functioning, only by name, within the Ministry…

PITT-HOPKINS Syndrome

OMIM #610954 PITT-HOPKINS SYNDROME; PTHS   Alternative titles; symbols ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION   Phenotype Gene Relationships Location Phenotype Phenotype MIM number Gene/Locus Gene/Locus MIM number 18q21.2 Pitt-Hopkins syndrome 610954 TCF4 602272   Clinical Synopsis   TEXT A number sign (#) is used with this entry because…

PALLISTER-KILLIAN Syndrome

OMIM #601803 ICD+ SNOMEDCT: 395657006, SNOMEDCT: 9527009 PALLISTER-KILLIAN SYNDROME; PKS   Alternative titles; symbols TETRASOMY 12p, MOSAIC ISOCHROMOSOME 12p SYNDROME   Other entities represented in this entry: HEXASOMY 12p, MOSAIC, INCLUDED   Clinical Synopsis   TEXT A number sign (#) is used with this entry because Pallister-Killian syndrome (PKS) is a dysmorphic condition caused by…