INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (IDDNPF)

Question 1

What is  INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (IDDNPF)?

Accepted Answer

rare

autosomal recessive

mutation in the SLC45A1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617532

Question 3

Which enzymes are involved?

Accepted Answer

Proton-associated sugar transporter A

Disease	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (IDDNPF)
OMIM	617532 OMIM = Online Mendelian Inheritance of Men
Orphanet	88616
Protein (UniProt)	Proton-associated sugar transporter A
Gene locus	1p36.23
ICD
Summary	rare autosomal recessive mutation in the SLC45A1 gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	behavior, anxiety developmental delay dysmorphism hypotonia intellectual disability/intellectual developmental disorder onset, childhood seizures