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Summary
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 SCAR20 (SNX14)
616354
OMIM = Online Medalian Inheritance of Men
397709
6q14.3
rare
autosomal recessive
mutation in the SNX14 gene
symptoms
ataxia
behavior, autism or autistic-like
brachydactyly
cerebellar atrophy or hypoplasia
clinodactyly
coarse facial features
cortical or cerebral atrophy
defect of walking, running, rising or climbing
dysmorphism
high arched palate
hypertonia, spasticity
hypertrichosis
hyporeflexia
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
macrocephaly (large calvaria, >2 SD for age)
nystagmus
onset, infancy
psychomotor retardation
scoliosis
seizures
speech development, delayed, abnormal
Teeth: delayed eruption or noneruption
laboratory finding
MRI, brain, abnormalities -
Literature
Cabezas OR,et al.Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2J Am Soc Nephrol2882529-25392017
Peter Burgard,et al.Issues with European guidelines for phenylketonuriaLancet Diabetes Endocrinol59681-6832017
Aartsma-Rus A,et al.Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding IssuesNucleic Acid Ther. 2017 Aug 10. do002017
Cossins J,et al.Congenital myasthenic syndromes due to mutations in ALG2 and ALG14Brain1363944-9562013
Chen YZ,et al.Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5Chin Med J (Engl)123223326-33332010
Byers HM,et al.Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb ContracturesJIMD Rep3001092016
Darin N,et al.Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent EpilepsyAm J Hum Genet9961325-13372016
Satchwell TJ,et al.Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesisHaematologica98111788-17962013
Punzo F,et al.Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B geneOrphanet J Rare Dis60892011