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Description
XREF(s)
Sudden cardiac failure, infantile
OMIM
Bile acid primary malabsorption
OMIM
Coeliac disease
https://www.ncbi.nlm.nih.gov/books/…
OMIM
Arthrogryposis, renal dysfunction, and cholestasis
disease 123456
test
Nystagmus, infantile periodic alternating, X-linked
X-linked infantile nystagmus is a…
OMIM
Abdominal obesity-metabolic syndrome 3
OMIM
Hereditary Alpha Tryptasemia
NIH (National Institute of Allergy and …
,
PubMed
CPT deficiency, hepatic, type IA
Rendu Osler Weber
Glycogen storage disease IV
Paternal uniparental disomy of chromosome 7
Paternal uniparental disomy of…
BILE ACID MALABSORPTION
OMIM
Premature Ovarian Failure
Ichthyosis vulgaris
OMIM
Intellectual developmental disorder with cardiac arrhythmia
OMIM
Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia
OMIM
Mental retardation, autosomal recessive 58
OMIM
Endometrial Cancer
OMIM
Early repolarization syndrome
https://www.omim.org/entry/613601?searc…
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