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Summary
SOTOS SYNDROME 2 SOTOS2
MALAN SYNDROME
614753
OMIM = Online Medalian Inheritance of Men
420179
19q13.13
rare
autosomal dominant
mutation in the NFIX gene
symptoms
ataxia
behavior, autism or autistic-like
cardiac involvement, cardiac defects
cardiomegaly
headache (severe, recurrent or occipital, migraine)
high birthweight (large for gestational age)
hypotonia
macrocephaly (large calvaria, >2 SD for age)
mental retardation
motor retardation
nystagmus
prominent forehead
skeletal changes, skeletal abnormalities
skoliosis, kyphoskoliosis
speech development, delayed, abnormal
strabismus
Teeth: premature eruption
vomiting
laboratory finding
no specific laboratory findings urine, serum plasma
Literature
Furukawa Y,Kish STyrosine Hydroxylase DeficiencyGeneReviews-« Internet002017
Mi XB,et al.CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NADPH Steroid Dehydrogenase-Like Protein Gene Mutation.Pediatr Dermatol326e277-2822015
Malek N,Fletcher N, Newman EDiagnosing dopamine-responsive dystoniasPract Neurol155340-3452015