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Summary
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (IDDNPF)
617532
OMIM = Online Medalian Inheritance of Men
88616
1p36.23
rare
autosomal recessive
mutation in the SLC45A1 gene
symptoms
behavior, anxiety
developmental delay
dysmorphism
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
onset, childhood
seizures
laboratory finding
no specific laboratory findings (P, S, U ,CSF)
Literature
Atwal PS,Scaglia FMolybdenum cofactor deficiencyMol Genet Metab11711-42016
Atwal PS,Scaglia FMolybdenum cofactor deficiencyMol Genet Metab11711-42016