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Summary
MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE MRXSSR
309583
OMIM = Online Medalian Inheritance of Men
3063
Xp22.11
very rare
X-likend recessive
mutation in the spermine synthase gene
symptoms
bifid uvula
bone fractures
brachycephaly
cleft palate
craniofacial anomalies
cryptorchism
dysmorphism
hyperpigmentation
hypertelorism
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
Marfanoid features
mental retardation
myopia
onset, childhood
onset, infancy
osteoporosis
seizures
short stature
skoliosis, kyphoskoliosis
speech development, delayed, abnormal
speech difficulties
tall stature
laboratory finding
N(8)-acetylspermidine plasma
Literature
Kranendijk M,et al.IDH2 mutations in patients with D-2-hydroxyglutaric aciduriaScience33060023362010
Deciphering Developmental Disorders Study Group, Constantinoet al.A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome SequencingMol Syndromol65254-2582016
Huemer M,et al.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyJ Inherit Metab Dis40121-482017
Huemer M,et al.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyJ Inherit Metab Dis40121-482017
Huemer M,et al.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyJ Inherit Metab Dis40121-482017
Huemer M,et al.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyJ Inherit Metab Dis40121-482017
Huemer M,et al.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyJ Inherit Metab Dis40121-482017
Huemer M,et al.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyJ Inherit Metab Dis40121-482017