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Summary
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA DUE TO ZNF143 DEFICIENCY
603433
OMIM = Online Medalian Inheritance of Men
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11p15.4
very rare
autosomal recessive
symptoms
abnormal movement
chorea or athetosis
developmental delay
dysmorphism
failure to thrive
hypotonia
microcephaly (<2 SD for age)
onset, childhood
onset, infancy
onset, neonatal
seizures
laboratory finding
Methylmalonic acid mmol/mol Creaurine
Methylmalonic acid +€mol/lplasma
Glycine +€mol/lplasma
Glycine +€mol/lcerebrospinal fluid
Homocysteine +€mol/lplasma
Propionylcarnitine (C3) +€mol/lblood
Literature
Norkett EM,et al.Social cognitive impairment in 22q11 deletion syndrome: A reviewPsychiatry Res253099-1062017