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Summary
CLATHRIN (CTLC) VARIATION
617854
OMIM = Online Medalian Inheritance of Men
178469
17q23.1
mutation in the CLTC gene
symptoms
ataxia
dysmorphism
dystonia
encephalopathy
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
learning disability
myoclonus
onset, adolescent
onset, childhood
Parkinsonism
seizures
laboratory finding
Phenylalanine +€mol/lplasma
Homovanillic acid +€mol/lcerebrospinal fluid
5-Hydroxyindolacetic acid (5-HIAA) nmol/lcerebrospinal fluid
5-Methyltetrahydrofolate (5-MTHF) nmol/lcerebrospinal fluid
Literature
Fedele AOSanfilippo syndrome: causes, consequences, and treatmentsAppl Clin Genet80269-2812015
Fedele AOSanfilippo syndrome: causes, consequences, and treatmentsAppl Clin Genet80269-2812015
Fedele AOSanfilippo syndrome: causes, consequences, and treatmentsAppl Clin Genet80269-2812015