MORFAN SYNDROME

Question 1

What is  MORFAN SYNDROME?

Accepted Answer

MORFAN = Mental retardation, pre- and post-natal Overgrowth, Remarkable Face, and Acanthosis Nigricans, syndrome of unknown etiology [Garg N et al. 2015]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Morfan-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN ---

Question 4

Which enzymes are involved?

Accepted Answer

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Disease	MORFAN SYNDROME
OMIM	--- OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Gene locus	Detail information to gene locus by the National Center for Biotechnology Information NCBI: MAJOR HISTOCOMPATIBILITY COMPLEX
ICD
Summary	MORFAN = Mental retardation, pre- and post-natal Overgrowth, Remarkable Face, and Acanthosis Nigricans, syndrome of unknown etiology [Garg N et al. 2015]
Laboratory findings	D-Glucose dec (plasma) Insulin dec (serum)
Symptoms	dysmorphism hypoketotic hypoglycemia mental retardation onset, infancy onset, neonatal