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GENATLAS PHENOTYPE
last update : 25-10-2019
Symbol NEDMABA
Location 2q21.1
Name neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Corresponding gene SMPD4
Main clinical features
  • severe global developmental delay, usually with hypotonia and absence of spontaneous movements other than head control, impaired intellectual development with absent speech, distal contractures, progressive microcephaly, dysmorphic features
  • neonatal respiratory distress, congenital arthrogryposis and progressive microcephaly
  • distal skeletal abnormalities, such as rocker-bottom feet and clenched hands with camptodactyly; brain imaging tends to show a simplified gyral pattern of the cerebral cortex, delayed myelination, thin corpus callosum, and hypoplasia of the brainstem and cerebellum
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Remark(s)