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Summary
DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (DOORS)
DOOR SYNDROME
220500
OMIM = Online Medalian Inheritance of Men
79500
16p13.3
rare
autosomal recessive
mutation in the TBC1D24 gene
2 types:
- organic acid abnormalities
- not accompanied with organic acid abnormalities
symptoms
ataxia
blindness, visual loss, visual impairment
cataract
cerebral atrophy
coarse facial features
congenital heart defect
dermatoglyphic abnormalities
developmental delay
dysmorphism
early death
feeding difficulties, poor feeding
hearing defect, deafness
hyporeflexia
hypotonia
mental retardation
microcephaly (<2 SD for age)
myopia
onset, infancy
onychodystrophy
optic atrophy
osteodystrophy
peripheral neuropathy
psychomotor retardation
renal cysts
seizures
short stature
laboratory finding
Thiamine pyrophosphate increasedurine
MRI, brain, abnormalities -
Sedoheptulose-7-phosphate increasedurine
Literature
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