Introduction
Pocket Metab
Impressum
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Diseases
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Symptoms
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Lab Parameters
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Authors
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Ramedis
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BH4 Patient
This is the list of current selected symptoms or laboratory findings.
In order to reduce this list click on one of this.
anteverted nostril
Associated Diseases
Laboratory Findings
Clinical Symptoms
SMITH-LEMLI-OPITZ SYNDROME
MIM:270400
3-Methylglutaconic acid
7-Dehydrocholesterol reductase
7-Dehydrocholesterol
8-Dehydrocholesterol
Cholesterol
Transaminases
anteverted nostril
behavior, self-mutilating or destructive
broad forehead (wide)
broad nasal bridge
cataract
cholestasis
congenital heart defect
cryptorchism
dysmorphism
failure to thrive
feeding difficulties
genitalia, ambigous
hypospadia
hypotonia
limb abnormalities, limb deformities
liver involvement (acute, chronic, hepatitis)
low set ears
mental retardation
microcephaly
myelination, incomplete
photophobia or photosensitive defect in light-exposed area
polydactyly
ptosis (drooping eyelid)
renal cysts
sacral dimple
short neck
short nose
small chin or micrognathia
syndactyly
urinary tract defects
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